ClinVar for MedGen (Select 411200) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24981221.	NM_001384732.1(CPLANE1):c.[2854_2855insCT;3599C>T] GRCh37: Chr5:37198877 Chr5:37213726-37213727 GRCh38: Chr5:37198775 Chr5:37213624-37213625	CPLANE1, CPLANE1	A1200V, N952fs	Joubert syndrome 17	Likely pathogenic (Sep 8, 2022)	criteria provided, single submitter
Select item 18013372.	NM_001384732.1(CPLANE1):c.6462G>A (p.Gln2154=) GRCh37: Chr5:37170143 GRCh38: Chr5:37170041	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Nov 6, 2020)	criteria provided, single submitter
Select item 16875153.	NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter) GRCh37: Chr5:37170319 GRCh38: Chr5:37170217	CPLANE1	Q2096*	Orofaciodigital syndrome type 6	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 16856674.	NM_001384732.1(CPLANE1):c.586T>C (p.Cys196Arg) GRCh37: Chr5:37243206 GRCh38: Chr5:37243104	CPLANE1	C196R	not provided, Orofaciodigital syndrome type 6	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 16650585.	NM_001384732.1(CPLANE1):c.8011+12del GRCh37: Chr5:37157760 GRCh38: Chr5:37157658	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16568246.	NM_001384732.1(CPLANE1):c.3150-12A>G GRCh37: Chr5:37205568 GRCh38: Chr5:37205466	CPLANE1		not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16539877.	NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly) GRCh37: Chr5:37183088 GRCh38: Chr5:37182986	CPLANE1	D1732G	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16489608.	NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=) GRCh37: Chr5:37174001 GRCh38: Chr5:37173899	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Likely benign (Feb 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16482949.	NM_001384732.1(CPLANE1):c.1121+7C>T GRCh37: Chr5:37230962 GRCh38: Chr5:37230860	CPLANE1		not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Likely benign (Oct 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 162838510.	NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=) GRCh37: Chr5:37245936 GRCh38: Chr5:37245834	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Likely benign (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162590311.	NM_001384732.1(CPLANE1):c.8461+19G>A GRCh37: Chr5:37148264 GRCh38: Chr5:37148162	CPLANE1		Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161993512.	NM_001384732.1(CPLANE1):c.938+20T>C GRCh37: Chr5:37238939 GRCh38: Chr5:37238837	CPLANE1		not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Likely benign (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160652413.	NM_001384732.1(CPLANE1):c.7401-14A>G GRCh37: Chr5:37165787 GRCh38: Chr5:37165685	CPLANE1		Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Likely benign (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160186314.	NM_001384732.1(CPLANE1):c.834+15G>A GRCh37: Chr5:37239800 GRCh38: Chr5:37239698	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159760315.	NM_001384732.1(CPLANE1):c.3474A>G (p.Pro1158=) GRCh37: Chr5:37201726 GRCh38: Chr5:37201624	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Likely benign (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 159587116.	NM_001384732.1(CPLANE1):c.3508-19A>G GRCh37: Chr5:37198987 GRCh38: Chr5:37198885	CPLANE1		not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159399417.	NM_001384732.1(CPLANE1):c.1522-16dup GRCh37: Chr5:37227190-37227191 GRCh38: Chr5:37227088-37227089	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158476818.	NM_001384732.1(CPLANE1):c.570+12C>T GRCh37: Chr5:37244465 GRCh38: Chr5:37244363	CPLANE1		not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Likely benign (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158441419.	NM_001384732.1(CPLANE1):c.8374-13G>T GRCh37: Chr5:37148383 GRCh38: Chr5:37148281	CPLANE1		not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Likely benign (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157748920.	NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=) GRCh37: Chr5:37227074 GRCh38: Chr5:37226972	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Likely benign (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155391421.	NM_001384732.1(CPLANE1):c.5738-5G>A GRCh37: Chr5:37179550 GRCh38: Chr5:37179448	CPLANE1		Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155046122.	NM_001384732.1(CPLANE1):c.7589-12A>C GRCh37: Chr5:37162680 GRCh38: Chr5:37162578	CPLANE1		Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Likely benign (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 154460123.	NM_001384732.1(CPLANE1):c.3673-8_3673-4del GRCh37: Chr5:37196102-37196106 GRCh38: Chr5:37196000-37196004	CPLANE1		not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154314924.	NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=) GRCh37: Chr5:37187859 GRCh38: Chr5:37187757	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Likely benign (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154144925.	NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=) GRCh37: Chr5:37162616 GRCh38: Chr5:37162514	CPLANE1		Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153994326.	NM_001384732.1(CPLANE1):c.2208T>C (p.Ser736=) GRCh37: Chr5:37226489 GRCh38: Chr5:37226387	CPLANE1		Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153645627.	NM_001384732.1(CPLANE1):c.2746+16dup GRCh37: Chr5:37221409-37221410 GRCh38: Chr5:37221307-37221308	CPLANE1		Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Benign/Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153396228.	NM_001384732.1(CPLANE1):c.6463-17T>C GRCh37: Chr5:37169680 GRCh38: Chr5:37169578	CPLANE1		not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153187029.	NM_001384732.1(CPLANE1):c.2746+15_2746+16del GRCh37: Chr5:37221410-37221411 GRCh38: Chr5:37221308-37221309	CPLANE1		not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Benign/Likely benign (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 152485430.	NM_001384732.1(CPLANE1):c.6130G>A (p.Val2044Ile) GRCh37: Chr5:37173898 GRCh38: Chr5:37173796	CPLANE1	V2044I	not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Sep 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 152386731.	NM_001384732.1(CPLANE1):c.7958A>G (p.Tyr2653Cys) GRCh37: Chr5:37157825 GRCh38: Chr5:37157723	CPLANE1	Y2653C, Y2635C	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152245432.	NM_001384732.1(CPLANE1):c.6644A>G (p.His2215Arg) GRCh37: Chr5:37169482 GRCh38: Chr5:37169380	CPLANE1	H2215R	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152231433.	NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val) GRCh37: Chr5:37183080 GRCh38: Chr5:37182978	CPLANE1	L1735V	not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151493934.	NM_001384732.1(CPLANE1):c.6538C>G (p.Gln2180Glu) GRCh37: Chr5:37169588 GRCh38: Chr5:37169486	CPLANE1	Q2180E	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 150980935.	NM_001384732.1(CPLANE1):c.8747C>G (p.Ser2916Cys) GRCh37: Chr5:37138867 GRCh38: Chr5:37138765	CPLANE1	S2862C, S2916C	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150917636.	NM_001384732.1(CPLANE1):c.4219G>T (p.Val1407Phe) GRCh37: Chr5:37185152 GRCh38: Chr5:37185050	CPLANE1	V1407F	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150520737.	NM_001384732.1(CPLANE1):c.7940C>T (p.Ser2647Leu) GRCh37: Chr5:37157843 GRCh38: Chr5:37157741	CPLANE1	S2629L, S2647L	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150450238.	NM_001384732.1(CPLANE1):c.7736A>G (p.Tyr2579Cys) GRCh37: Chr5:37158402 GRCh38: Chr5:37158300	CPLANE1	Y2579C	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149268539.	NM_001384732.1(CPLANE1):c.202A>G (p.Thr68Ala) GRCh37: Chr5:37245827 GRCh38: Chr5:37245725	CPLANE1	T68A	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149263340.	NM_001384732.1(CPLANE1):c.7562C>G (p.Pro2521Arg) GRCh37: Chr5:37164401 GRCh38: Chr5:37164299	CPLANE1	P2521R	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148558741.	NM_001384732.1(CPLANE1):c.9227G>A (p.Gly3076Glu) GRCh37: Chr5:37120401 GRCh38: Chr5:37120299	CPLANE1	G3022E, G3076E	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147230642.	NM_001384732.1(CPLANE1):c.5051C>T (p.Ser1684Leu) GRCh37: Chr5:37183232 GRCh38: Chr5:37183130	CPLANE1	S1684L	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146071643.	NM_001384732.1(CPLANE1):c.338C>A (p.Ala113Glu) GRCh37: Chr5:37244709 GRCh38: Chr5:37244607	CPLANE1	A113E	not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145639344.	NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs) GRCh37: Chr5:37169094 GRCh38: Chr5:37168992	CPLANE1	K2345fs	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Pathogenic/Likely pathogenic (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144615345.	NM_001384732.1(CPLANE1):c.5737+15A>G GRCh37: Chr5:37180104 GRCh38: Chr5:37180002	CPLANE1		not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144520346.	NM_001384732.1(CPLANE1):c.3839G>A (p.Cys1280Tyr) GRCh37: Chr5:37187917 GRCh38: Chr5:37187815	CPLANE1	C1280Y	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144486047.	NM_001384732.1(CPLANE1):c.5255G>A (p.Arg1752Lys) GRCh37: Chr5:37183028 GRCh38: Chr5:37182926	CPLANE1	R1752K	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144446448.	NM_001384732.1(CPLANE1):c.1823T>G (p.Ile608Ser) GRCh37: Chr5:37226874 GRCh38: Chr5:37226772	CPLANE1	I608S	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144334249.	NM_001384732.1(CPLANE1):c.8930A>G (p.His2977Arg) GRCh37: Chr5:37125374 GRCh38: Chr5:37125272	CPLANE1	H2923R, H2977R	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (May 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144333350.	NM_001384732.1(CPLANE1):c.9146C>T (p.Thr3049Ile) GRCh37: Chr5:37121758 GRCh38: Chr5:37121656	CPLANE1	T2995I, T3049I	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144161751.	NM_001384732.1(CPLANE1):c.3415G>C (p.Asp1139His) GRCh37: Chr5:37201785 GRCh38: Chr5:37201683	CPLANE1	D1139H	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143951952.	NM_001384732.1(CPLANE1):c.4055T>C (p.Ile1352Thr) GRCh37: Chr5:37187541 GRCh38: Chr5:37187439	CPLANE1	I1352T	not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143896853.	NM_001384732.1(CPLANE1):c.1487A>G (p.Glu496Gly) GRCh37: Chr5:37227379 GRCh38: Chr5:37227277	CPLANE1	E496G	not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143691654.	NM_001384732.1(CPLANE1):c.8462-6G>C GRCh37: Chr5:37142588 GRCh38: Chr5:37142486	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143609155.	NM_001384732.1(CPLANE1):c.3245T>C (p.Leu1082Ser) GRCh37: Chr5:37205461 GRCh38: Chr5:37205359	CPLANE1	L1082S	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143573556.	NM_001384732.1(CPLANE1):c.3364G>A (p.Asp1122Asn) GRCh37: Chr5:37201836 GRCh38: Chr5:37201734	CPLANE1	D1122N	not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Uncertain significance (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143302257.	NM_001384732.1(CPLANE1):c.7534-4_7534-3del GRCh37: Chr5:37164432-37164433 GRCh38: Chr5:37164330-37164331	CPLANE1		Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142961058.	NM_001384732.1(CPLANE1):c.5141C>T (p.Thr1714Ile) GRCh37: Chr5:37183142 GRCh38: Chr5:37183040	CPLANE1	T1714I	not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142785159.	NM_001384732.1(CPLANE1):c.6511C>T (p.Arg2171Trp) GRCh37: Chr5:37169615 GRCh38: Chr5:37169513	CPLANE1	R2171W	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142762060.	NM_001384732.1(CPLANE1):c.1303A>G (p.Met435Val) GRCh37: Chr5:37227738 GRCh38: Chr5:37227636	CPLANE1	M435V	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142757961.	NM_001384732.1(CPLANE1):c.4156C>T (p.Leu1386Phe) GRCh37: Chr5:37186421 GRCh38: Chr5:37186319	CPLANE1	L1386F	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142737062.	NM_001384732.1(CPLANE1):c.364G>A (p.Val122Ile) GRCh37: Chr5:37244683 GRCh38: Chr5:37244581	CPLANE1	V122I	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142629463.	NM_001384732.1(CPLANE1):c.4678T>C (p.Tyr1560His) GRCh37: Chr5:37183605 GRCh38: Chr5:37183503	CPLANE1	Y1560H	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142516664.	NM_001384732.1(CPLANE1):c.2082G>A (p.Met694Ile) GRCh37: Chr5:37226615 GRCh38: Chr5:37226513	CPLANE1	M694I	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142445365.	NM_001384732.1(CPLANE1):c.7576G>A (p.Asp2526Asn) GRCh37: Chr5:37164387 GRCh38: Chr5:37164285	CPLANE1	D2526N	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142377166.	NM_001384732.1(CPLANE1):c.3379T>G (p.Ser1127Ala) GRCh37: Chr5:37201821 GRCh38: Chr5:37201719	CPLANE1	S1127A	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Jun 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142228967.	NM_001384732.1(CPLANE1):c.5978+4A>G GRCh37: Chr5:37176007 GRCh38: Chr5:37175905	CPLANE1		Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142212568.	NM_001384732.1(CPLANE1):c.1645A>G (p.Met549Val) GRCh37: Chr5:37227052 GRCh38: Chr5:37226950	CPLANE1	M549V	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142056769.	NM_001384732.1(CPLANE1):c.1472A>T (p.Lys491Ile) GRCh37: Chr5:37227394 GRCh38: Chr5:37227292	CPLANE1	K491I	not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142052870.	NM_001384732.1(CPLANE1):c.6057A>G (p.Gln2019=) GRCh37: Chr5:37173971 GRCh38: Chr5:37173869	CPLANE1		not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142050671.	NM_001384732.1(CPLANE1):c.2663A>G (p.Asp888Gly) GRCh37: Chr5:37221509 GRCh38: Chr5:37221407	CPLANE1	D888G	not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141989772.	NM_001384732.1(CPLANE1):c.1958A>G (p.Tyr653Cys) GRCh37: Chr5:37226739 GRCh38: Chr5:37226637	CPLANE1	Y653C	not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141873873.	NM_001384732.1(CPLANE1):c.2354G>A (p.Arg785Gln) GRCh37: Chr5:37224780 GRCh38: Chr5:37224678	CPLANE1	R785Q	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141844174.	NM_001384732.1(CPLANE1):c.7079C>T (p.Pro2360Leu) GRCh37: Chr5:37169047 GRCh38: Chr5:37168945	CPLANE1	P2360L	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Jul 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141710375.	NM_001384732.1(CPLANE1):c.6668A>T (p.Asp2223Val) GRCh37: Chr5:37169458 GRCh38: Chr5:37169356	CPLANE1	D2223V	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141616276.	NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) GRCh37: Chr5:37198877 GRCh38: Chr5:37198775	CPLANE1	A1200E	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Pathogenic/Likely pathogenic (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141564977.	NM_001384732.1(CPLANE1):c.8664-19A>G GRCh37: Chr5:37138969 GRCh38: Chr5:37138867	CPLANE1		Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 141491978.	NM_001384732.1(CPLANE1):c.6595C>T (p.Leu2199Phe) GRCh37: Chr5:37169531 GRCh38: Chr5:37169429	CPLANE1	L2199F	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141305379.	NM_001384732.1(CPLANE1):c.9307C>T (p.His3103Tyr) GRCh37: Chr5:37120321 GRCh38: Chr5:37120219	CPLANE1	H3049Y, H3103Y	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141081880.	NM_001384732.1(CPLANE1):c.5066A>G (p.Gln1689Arg) GRCh37: Chr5:37183217 GRCh38: Chr5:37183115	CPLANE1	Q1689R	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140791981.	NM_001384732.1(CPLANE1):c.9694G>A (p.Glu3232Lys) GRCh37: Chr5:37107766 GRCh38: Chr5:37107664	CPLANE1	E3178K, E3232K	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Sep 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140633782.	NM_001384732.1(CPLANE1):c.212G>A (p.Ser71Asn) GRCh37: Chr5:37245817 GRCh38: Chr5:37245715	CPLANE1	S71N	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140404883.	NM_001384732.1(CPLANE1):c.3557A>G (p.Lys1186Arg) GRCh37: Chr5:37198919 GRCh38: Chr5:37198817	CPLANE1	K1186R	not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140284784.	NM_001384732.1(CPLANE1):c.5114T>C (p.Ile1705Thr) GRCh37: Chr5:37183169 GRCh38: Chr5:37183067	CPLANE1	I1705T	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140131385.	NM_001384732.1(CPLANE1):c.5863G>C (p.Glu1955Gln) GRCh37: Chr5:37177760 GRCh38: Chr5:37177658	CPLANE1	E1955Q	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140038086.	NM_001384732.1(CPLANE1):c.6734G>T (p.Ser2245Ile) GRCh37: Chr5:37169392 GRCh38: Chr5:37169290	CPLANE1	S2245I	not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139894087.	NM_001384732.1(CPLANE1):c.1969G>A (p.Val657Met) GRCh37: Chr5:37226728 GRCh38: Chr5:37226626	CPLANE1	V657M	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139349388.	NM_001384732.1(CPLANE1):c.6724C>A (p.His2242Asn) GRCh37: Chr5:37169402 GRCh38: Chr5:37169300	CPLANE1	H2242N	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139253689.	NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile) GRCh37: Chr5:37168972 GRCh38: Chr5:37168870	CPLANE1	T2385I	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139118290.	NM_001384732.1(CPLANE1):c.6456C>A (p.Asn2152Lys) GRCh37: Chr5:37170149 GRCh38: Chr5:37170047	CPLANE1	N2152K	not provided, Orofaciodigital syndrome type 6, Joubert syndrome 17	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139087291.	NM_001384732.1(CPLANE1):c.7972G>A (p.Val2658Ile) GRCh37: Chr5:37157811 GRCh38: Chr5:37157709	CPLANE1	V2640I, V2658I	not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138893792.	NM_001384732.1(CPLANE1):c.1115C>T (p.Thr372Met) GRCh37: Chr5:37230975 GRCh38: Chr5:37230873	CPLANE1	T372M	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138326193.	NM_001384732.1(CPLANE1):c.8432C>T (p.Ala2811Val) GRCh37: Chr5:37148312 GRCh38: Chr5:37148210	CPLANE1	A2757V, A2811V	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138174394.	NM_001384732.1(CPLANE1):c.5729A>C (p.Asp1910Ala) GRCh37: Chr5:37180127 GRCh38: Chr5:37180025	CPLANE1	D1910A	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138144995.	NM_001384732.1(CPLANE1):c.4175A>G (p.His1392Arg) GRCh37: Chr5:37186402 GRCh38: Chr5:37186300	CPLANE1	H1392R	not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137666896.	NM_001384732.1(CPLANE1):c.2824A>G (p.Met942Val) GRCh37: Chr5:37213757 GRCh38: Chr5:37213655	CPLANE1	M942V	not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137191397.	NM_001384732.1(CPLANE1):c.9038A>G (p.Tyr3013Cys) GRCh37: Chr5:37121866 GRCh38: Chr5:37121764	CPLANE1	Y2959C, Y3013C	Orofaciodigital syndrome type 6, Joubert syndrome 17, not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137024398.	NM_001384732.1(CPLANE1):c.9371C>T (p.Ala3124Val) GRCh37: Chr5:37115091 GRCh38: Chr5:37114989	CPLANE1	A3124V, A3070V	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136973599.	NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs) GRCh37: Chr5:37169649 GRCh38: Chr5:37169547	CPLANE1	S2160fs	not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6	Pathogenic/Likely pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1366170100.	NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val) GRCh37: Chr5:37158349 GRCh38: Chr5:37158247	CPLANE1	I2597V	Joubert syndrome 17, Orofaciodigital syndrome type 6, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts

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