ClinVar for MedGen (Select 436772) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 255

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24276011.	NC_000003.11:g.(?_93714775)_(93724716_?)del GRCh37: Chr3:93714775-93724716	ARL13B		Joubert syndrome 8	Pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 24276002.	NC_000003.11:g.(?_93772011)_(93845334_?)dup GRCh37: Chr3:93772011-93845334	ARL13B, DHFR2, NSUN3		Joubert syndrome 8	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 24275993.	NC_000003.11:g.(?_93692478)_(93699346_?)dup GRCh37: Chr3:93692478-93699346	PROS1, ARL13B		Joubert syndrome 8	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 24133474.	NM_001174150.2(ARL13B):c.680G>A (p.Arg227Gln) GRCh37: Chr3:93755589 GRCh38: Chr3:94036745	ARL13B	R120Q, R124Q, R212Q, R227Q	Joubert syndrome 8	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 22034085.	NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg) GRCh37: Chr3:93722595 GRCh38: Chr3:94003751	ARL13B	G60R, G75R	Joubert syndrome 8	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 22010076.	NM_001174150.2(ARL13B):c.1250A>C (p.Gln417Pro) GRCh37: Chr3:93772070 GRCh38: Chr3:94053226	ARL13B	Q314P, Q394P, Q310P, Q402P, Q417P	Joubert syndrome 8	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 21914477.	NM_001174150.2(ARL13B):c.778A>G (p.Ile260Val) GRCh37: Chr3:93758812 GRCh38: Chr3:94039968	ARL13B	I245V, I153V, I157V, I260V	Joubert syndrome 8	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 21876348.	NM_001174150.2(ARL13B):c.1211-18T>C GRCh37: Chr3:93772013 GRCh38: Chr3:94053169	ARL13B		Joubert syndrome 8	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 21845269.	NM_001174150.2(ARL13B):c.730A>G (p.Ser244Gly) GRCh37: Chr3:93758764 GRCh38: Chr3:94039920	ARL13B	S141G, S229G, S137G, S244G	Joubert syndrome 8	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 218034310.	NM_001174150.2(ARL13B):c.1210+14A>G GRCh37: Chr3:93769750 GRCh38: Chr3:94050906	ARL13B		Joubert syndrome 8	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 217988011.	NM_001174150.2(ARL13B):c.910G>A (p.Val304Ile) GRCh37: Chr3:93761970 GRCh38: Chr3:94043126	ARL13B	V197I, V289I, V304I, V201I	Joubert syndrome 8	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 217691012.	NM_001174150.2(ARL13B):c.550del (p.Tyr184fs) GRCh37: Chr3:93755457 GRCh38: Chr3:94036613	ARL13B	Y184fs, Y77fs, Y81fs, Y169fs	Joubert syndrome 8	Pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 216848713.	NM_001174150.2(ARL13B):c.486+13T>G GRCh37: Chr3:93754293 GRCh38: Chr3:94035449	ARL13B		Joubert syndrome 8	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 216604614.	NM_001174150.2(ARL13B):c.18C>T (p.Ala6=) GRCh37: Chr3:93699285 GRCh38: Chr3:93980441	ARL13B		Joubert syndrome 8	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 216336315.	NM_001174150.2(ARL13B):c.1024+6_1024+9del GRCh37: Chr3:93762087-93762090 GRCh38: Chr3:94043243-94043246	ARL13B		Joubert syndrome 8	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216330916.	NM_001174150.2(ARL13B):c.59+20C>G GRCh37: Chr3:93699346 GRCh38: Chr3:93980502	ARL13B		Joubert syndrome 8	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 215975717.	NM_001174150.2(ARL13B):c.286G>T (p.Val96Leu) GRCh37: Chr3:93722658 GRCh38: Chr3:94003814	ARL13B	V96L, V81L	Joubert syndrome 8	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215730318.	NM_001174150.2(ARL13B):c.1132C>G (p.Pro378Ala) GRCh37: Chr3:93768357 GRCh38: Chr3:94049513	ARL13B	P271A, P363A, P275A, P378A	Joubert syndrome 8	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 215422719.	NM_001174150.2(ARL13B):c.1268C>T (p.Ala423Val) GRCh37: Chr3:93772088 GRCh38: Chr3:94053244	ARL13B	A316V, A400V, A408V, A423V, A320V	Joubert syndrome 8	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 215337220.	NM_001174150.2(ARL13B):c.487G>C (p.Glu163Gln) GRCh37: Chr3:93755396 GRCh38: Chr3:94036552	ARL13B	E56Q, E148Q, E163Q, E60Q	Joubert syndrome 8	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 214836721.	NM_001174150.2(ARL13B):c.1025-20T>C GRCh37: Chr3:93768230 GRCh38: Chr3:94049386	ARL13B		Joubert syndrome 8	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 214669222.	NM_001174150.2(ARL13B):c.60-18A>G GRCh37: Chr3:93714700 GRCh38: Chr3:93995856	ARL13B		Joubert syndrome 8	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 214020123.	NM_001174150.2(ARL13B):c.1210+9A>T GRCh37: Chr3:93769745 GRCh38: Chr3:94050901	ARL13B		Joubert syndrome 8	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 213455624.	NM_001174150.2(ARL13B):c.1144G>T (p.Gly382Cys) GRCh37: Chr3:93769670 GRCh38: Chr3:94050826	ARL13B	G382C, G367C, G275C, G279C	Joubert syndrome 8	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 213195925.	NM_001174150.2(ARL13B):c.688A>G (p.Arg230Gly) GRCh37: Chr3:93755597 GRCh38: Chr3:94036753	ARL13B	R127G, R123G, R215G, R230G	Joubert syndrome 8	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213115226.	NM_001174150.2(ARL13B):c.277A>G (p.Ile93Val) GRCh37: Chr3:93722649 GRCh38: Chr3:94003805	ARL13B	I93V, I78V	Joubert syndrome 8	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 212331827.	NM_001174150.2(ARL13B):c.362C>T (p.Ser121Leu) GRCh37: Chr3:93722734 GRCh38: Chr3:94003890	ARL13B	S18L, S121L, S106L	Joubert syndrome 8	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 211903328.	NM_001174150.2(ARL13B):c.130+7T>G GRCh37: Chr3:93714795 GRCh38: Chr3:93995951	ARL13B		Joubert syndrome 8	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211168929.	NM_001174150.2(ARL13B):c.200T>G (p.Val67Gly) GRCh37: Chr3:93722572 GRCh38: Chr3:94003728	ARL13B	V52G, V67G	Joubert syndrome 8	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 209689630.	NM_001174150.2(ARL13B):c.206T>A (p.Ile69Asn) GRCh37: Chr3:93722578 GRCh38: Chr3:94003734	ARL13B	I69N, I54N	Joubert syndrome 8	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 209488831.	NM_001174150.2(ARL13B):c.59+15G>A GRCh37: Chr3:93699341 GRCh38: Chr3:93980497	ARL13B		Joubert syndrome 8	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209393832.	NM_001174150.2(ARL13B):c.798+4T>C GRCh37: Chr3:93758836 GRCh38: Chr3:94039992	ARL13B		Joubert syndrome 8	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 208317633.	NM_001174150.2(ARL13B):c.533C>A (p.Ser178Tyr) GRCh37: Chr3:93755442 GRCh38: Chr3:94036598	ARL13B	S178Y, S71Y, S163Y, S75Y	Joubert syndrome 8	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 205331934.	NM_001174150.2(ARL13B):c.1141+1G>A GRCh37: Chr3:93768367 GRCh38: Chr3:94049523	ARL13B		Joubert syndrome 8	Likely pathogenic (Dec 22, 2021)	criteria provided, single submitter
Select item 204929835.	NM_001174150.2(ARL13B):c.847G>C (p.Asp283His) GRCh37: Chr3:93761907 GRCh38: Chr3:94043063	ARL13B	D176H, D180H, D268H, D283H	Joubert syndrome 8	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 204252836.	NM_001174150.2(ARL13B):c.76A>G (p.Met26Val) GRCh37: Chr3:93714734 GRCh38: Chr3:93995890	ARL13B	M26V	Joubert syndrome 8	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 204020137.	NM_001174150.2(ARL13B):c.807A>G (p.Gly269=) GRCh37: Chr3:93761867 GRCh38: Chr3:94043023	ARL13B		Joubert syndrome 8	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 203576438.	NM_001174150.2(ARL13B):c.538A>T (p.Lys180Ter) GRCh37: Chr3:93755447 GRCh38: Chr3:94036603	ARL13B	K165, K180, K73, K77	Joubert syndrome 8	Pathogenic (Oct 16, 2022)	criteria provided, single submitter
Select item 202627539.	NM_001174150.2(ARL13B):c.1211-5_1211-4del GRCh37: Chr3:93772025-93772026 GRCh38: Chr3:94053181-94053182	ARL13B		Joubert syndrome 8	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202351440.	NM_001174150.2(ARL13B):c.648A>G (p.Lys216=) GRCh37: Chr3:93755557 GRCh38: Chr3:94036713	ARL13B		Joubert syndrome 8	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 200448741.	NM_001174150.2(ARL13B):c.466C>T (p.His156Tyr) GRCh37: Chr3:93754260 GRCh38: Chr3:94035416	ARL13B	H156Y, H49Y, H141Y, H53Y	Joubert syndrome 8	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 200325242.	NM_001174150.2(ARL13B):c.721G>T (p.Asp241Tyr) GRCh37: Chr3:93758755 GRCh38: Chr3:94039911	ARL13B	D241Y, D226Y, D134Y, D138Y	Joubert syndrome 8, Inborn genetic diseases	Uncertain significance (May 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 200101243.	NM_001174150.2(ARL13B):c.607_609del (p.Lys203del) GRCh37: Chr3:93755514-93755516 GRCh38: Chr3:94036670-94036672	ARL13B	K188del, K96del, K100del, K203del	Joubert syndrome 8	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200065244.	NM_001174150.2(ARL13B):c.1020A>T (p.Glu340Asp) GRCh37: Chr3:93762080 GRCh38: Chr3:94043236	ARL13B	E233D, E340D, E237D, E325D	Joubert syndrome 8	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 197259845.	NM_001174150.2(ARL13B):c.823A>G (p.Lys275Glu) GRCh37: Chr3:93761883 GRCh38: Chr3:94043039	ARL13B	K168E, K275E, K172E, K260E	Joubert syndrome 8	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 196701646.	NM_001174150.2(ARL13B):c.1_4delACAA GRCh37: Chr3:93772106-93772109 GRCh38: Chr3:94053262-94053265	ARL13B		Joubert syndrome 8	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 196685747.	NM_001174150.2(ARL13B):c.269A>G (p.Tyr90Cys) GRCh37: Chr3:93722641 GRCh38: Chr3:94003797	ARL13B	Y90C, Y75C	Joubert syndrome 8	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 196293348.	NM_001174150.2(ARL13B):c.477G>T (p.Leu159=) GRCh37: Chr3:93754271 GRCh38: Chr3:94035427	ARL13B		Joubert syndrome 8	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 194722049.	NM_001174150.2(ARL13B):c.59+16C>G GRCh37: Chr3:93699342 GRCh38: Chr3:93980498	ARL13B		Joubert syndrome 8	Uncertain significance (Feb 16, 2022)	criteria provided, single submitter
Select item 194535550.	NM_001174150.2(ARL13B):c.127G>C (p.Gly43Arg) GRCh37: Chr3:93714785 GRCh38: Chr3:93995941	ARL13B	G43R	Joubert syndrome 8	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 191828551.	NM_001174150.2(ARL13B):c.415G>A (p.Gly139Arg) GRCh37: Chr3:93754209 GRCh38: Chr3:94035365	ARL13B	G36R, G124R, G139R, G32R	Joubert syndrome 8	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 191223052.	NM_001174150.2(ARL13B):c.70C>T (p.Leu24Phe) GRCh37: Chr3:93714728 GRCh38: Chr3:93995884	ARL13B	L24F	Joubert syndrome 8	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 190834053.	NM_001174150.2(ARL13B):c.899C>T (p.Thr300Ile) GRCh37: Chr3:93761959 GRCh38: Chr3:94043115	ARL13B	T197I, T193I, T300I, T285I	Joubert syndrome 8	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 190175254.	NM_001174150.2(ARL13B):c.59+20C>T GRCh37: Chr3:93699346 GRCh38: Chr3:93980502	ARL13B		Joubert syndrome 8	Benign (Apr 22, 2022)	criteria provided, single submitter
Select item 189881355.	NM_001174150.2(ARL13B):c.629C>T (p.Ala210Val) GRCh37: Chr3:93755538 GRCh38: Chr3:94036694	ARL13B	A103V, A210V, A107V, A195V	Joubert syndrome 8	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 189761356.	NM_001174150.2(ARL13B):c.238G>A (p.Gly80Arg) GRCh37: Chr3:93722610 GRCh38: Chr3:94003766	ARL13B	G65R, G80R	Joubert syndrome 8	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 189613157.	NM_001174150.2(ARL13B):c.830del (p.Asn277fs) GRCh37: Chr3:93761883 GRCh38: Chr3:94043039	ARL13B	N170fs, N277fs, N174fs, N262fs	Joubert syndrome 8	Pathogenic (Sep 29, 2022)	criteria provided, single submitter
Select item 171353058.	NM_001174150.2(ARL13B):c.1071C>G (p.His357Gln) GRCh37: Chr3:93768296 GRCh38: Chr3:94049452	ARL13B	H250Q, H254Q, H342Q, H357Q	Joubert syndrome 8	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 166957659.	NM_001174150.2(ARL13B):c.689+12_689+13delinsCC GRCh37: Chr3:93755610-93755611 GRCh38: Chr3:94036766-94036767	ARL13B		Joubert syndrome 8	Likely benign (Jun 25, 2021)	criteria provided, single submitter
Select item 166957560.	NM_001174150.2(ARL13B):c.689+8_689+11del GRCh37: Chr3:93755606-93755609 GRCh38: Chr3:94036762-94036765	ARL13B		Joubert syndrome 8	Likely benign (Jun 25, 2021)	criteria provided, single submitter
Select item 166805161.	NM_001174150.2(ARL13B):c.59+18G>C GRCh37: Chr3:93699344 GRCh38: Chr3:93980500	ARL13B		Joubert syndrome 8	Likely benign (Mar 7, 2021)	criteria provided, single submitter
Select item 164477462.	NM_001174150.2(ARL13B):c.1210+16del GRCh37: Chr3:93769751 GRCh38: Chr3:94050907	ARL13B		Joubert syndrome 8	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 163673963.	NM_001174150.2(ARL13B):c.819A>G (p.Arg273=) GRCh37: Chr3:93761879 GRCh38: Chr3:94043035	ARL13B		Joubert syndrome 8	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 163369964.	NM_001174150.2(ARL13B):c.59+14A>G GRCh37: Chr3:93699340 GRCh38: Chr3:93980496	ARL13B		Joubert syndrome 8	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 162337165.	NM_001174150.2(ARL13B):c.1024+10C>G GRCh37: Chr3:93762094 GRCh38: Chr3:94043250	ARL13B		Joubert syndrome 8	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 162089966.	NM_001174150.2(ARL13B):c.1248A>G (p.Pro416=) GRCh37: Chr3:93772068 GRCh38: Chr3:94053224	ARL13B		Joubert syndrome 8	Likely benign (Sep 14, 2021)	criteria provided, single submitter
Select item 161949167.	NM_001174150.2(ARL13B):c.487-11T>C GRCh37: Chr3:93755385 GRCh38: Chr3:94036541	ARL13B		Joubert syndrome 8	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 161939268.	NM_001174150.2(ARL13B):c.1210+8A>G GRCh37: Chr3:93769744 GRCh38: Chr3:94050900	ARL13B		Joubert syndrome 8	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 161447969.	NM_001174150.2(ARL13B):c.57C>A (p.Val19=) GRCh37: Chr3:93699324 GRCh38: Chr3:93980480	ARL13B		Joubert syndrome 8	Likely benign (Jun 29, 2021)	criteria provided, single submitter
Select item 161351170.	NM_001174150.2(ARL13B):c.1211-10C>T GRCh37: Chr3:93772021 GRCh38: Chr3:94053177	ARL13B		Joubert syndrome 8	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 160959571.	NM_001174150.2(ARL13B):c.486+12T>G GRCh37: Chr3:93754292 GRCh38: Chr3:94035448	ARL13B		Joubert syndrome 8	Likely benign (Jun 18, 2021)	criteria provided, single submitter
Select item 160859472.	NM_001174150.2(ARL13B):c.689+13A>T GRCh37: Chr3:93755611 GRCh38: Chr3:94036767	ARL13B		Joubert syndrome 8	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 160739073.	NM_001174150.2(ARL13B):c.798+8T>C GRCh37: Chr3:93758840 GRCh38: Chr3:94039996	ARL13B		Joubert syndrome 8	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 160703374.	NM_001174150.2(ARL13B):c.429C>T (p.Val143=) GRCh37: Chr3:93754223 GRCh38: Chr3:94035379	ARL13B		Joubert syndrome 8	Likely benign (Oct 28, 2021)	criteria provided, single submitter
Select item 160502575.	NM_001174150.2(ARL13B):c.1050A>G (p.Lys350=) GRCh37: Chr3:93768275 GRCh38: Chr3:94049431	ARL13B		Joubert syndrome 8	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 160203376.	NM_001174150.2(ARL13B):c.6C>T (p.Phe2=) GRCh37: Chr3:93699273 GRCh38: Chr3:93980429	ARL13B		Joubert syndrome 8	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 159316477.	NM_001174150.2(ARL13B):c.1211-20G>T GRCh37: Chr3:93772011 GRCh38: Chr3:94053167	ARL13B		Joubert syndrome 8	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 159196778.	NM_001174150.2(ARL13B):c.1210+11A>C GRCh37: Chr3:93769747 GRCh38: Chr3:94050903	ARL13B		Joubert syndrome 8	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 159101079.	NM_001174150.2(ARL13B):c.1024+22_1024+26del GRCh37: Chr3:93762103-93762107 GRCh38: Chr3:94043259-94043263	ARL13B		Joubert syndrome 8	Likely benign (Oct 30, 2020)	criteria provided, single submitter
Select item 158804980.	NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) GRCh37: Chr3:93762067 GRCh38: Chr3:94043223	ARL13B	R336Q, R321Q, R229Q, R233Q	Joubert syndrome 8	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 158605881.	NM_001174150.2(ARL13B):c.60-20T>A GRCh37: Chr3:93714698 GRCh38: Chr3:93995854	ARL13B		Joubert syndrome 8	Likely benign (May 16, 2021)	criteria provided, single submitter
Select item 158086882.	NM_001174150.2(ARL13B):c.912T>A (p.Val304=) GRCh37: Chr3:93761972 GRCh38: Chr3:94043128	ARL13B		Joubert syndrome 8	Likely benign (Sep 22, 2021)	criteria provided, single submitter
Select item 157677183.	NM_001174150.2(ARL13B):c.1119G>A (p.Thr373=) GRCh37: Chr3:93768344 GRCh38: Chr3:94049500	ARL13B		Joubert syndrome 8	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 156876384.	NM_001174150.2(ARL13B):c.699T>C (p.Asn233=) GRCh37: Chr3:93758733 GRCh38: Chr3:94039889	ARL13B		Joubert syndrome 8	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 156780085.	NM_001174150.2(ARL13B):c.487-15_487-12del GRCh37: Chr3:93755377-93755380 GRCh38: Chr3:94036533-94036536	ARL13B		Joubert syndrome 8	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 155936886.	NM_001174150.2(ARL13B):c.486+11T>G GRCh37: Chr3:93754291 GRCh38: Chr3:94035447	ARL13B		Joubert syndrome 8	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 155925187.	NM_001174150.2(ARL13B):c.799-18T>C GRCh37: Chr3:93761841 GRCh38: Chr3:94042997	ARL13B		Joubert syndrome 8	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 155140688.	NM_001174150.2(ARL13B):c.131-11A>G GRCh37: Chr3:93722492 GRCh38: Chr3:94003648	ARL13B		Joubert syndrome 8	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 154835989.	NM_001174150.2(ARL13B):c.1029T>C (p.Asn343=) GRCh37: Chr3:93768254 GRCh38: Chr3:94049410	ARL13B		Joubert syndrome 8	Likely benign (May 5, 2021)	criteria provided, single submitter
Select item 153344090.	NM_001174150.2(ARL13B):c.1089T>C (p.Asn363=) GRCh37: Chr3:93768314 GRCh38: Chr3:94049470	ARL13B		Joubert syndrome 8	Likely benign (Aug 4, 2021)	criteria provided, single submitter
Select item 152916391.	NM_001174150.2(ARL13B):c.1141+7A>G GRCh37: Chr3:93768373 GRCh38: Chr3:94049529	ARL13B		Joubert syndrome 8	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 152316192.	NM_001174150.2(ARL13B):c.195T>G (p.Phe65Leu) GRCh37: Chr3:93722567 GRCh38: Chr3:94003723	ARL13B	F50L, F65L	Joubert syndrome 8	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 151309993.	NM_001174150.2(ARL13B):c.961A>G (p.Lys321Glu) GRCh37: Chr3:93762021 GRCh38: Chr3:94043177	ARL13B	K321E, K214E, K218E, K306E	Joubert syndrome 8	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 150502294.	NM_001174150.2(ARL13B):c.169A>G (p.Lys57Glu) GRCh37: Chr3:93722541 GRCh38: Chr3:94003697	ARL13B	K57E, K42E	Joubert syndrome 8	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 150495995.	NM_001174150.2(ARL13B):c.436T>G (p.Cys146Gly) GRCh37: Chr3:93754230 GRCh38: Chr3:94035386	ARL13B	C131G, C39G, C146G, C43G	Joubert syndrome 8, not specified	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 150017996.	NM_001174150.2(ARL13B):c.406G>A (p.Gly136Arg) GRCh37: Chr3:93754200 GRCh38: Chr3:94035356	ARL13B	G121R, G136R, G29R, G33R	Joubert syndrome 8	Uncertain significance (Oct 28, 2021)	criteria provided, single submitter
Select item 149710897.	NM_001174150.2(ARL13B):c.190_192del (p.Lys64del) GRCh37: Chr3:93722562-93722564 GRCh38: Chr3:94003718-94003720	ARL13B	K49del, K64del	Joubert syndrome 8	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 149672598.	NM_001174150.2(ARL13B):c.906_908dup (p.Gly302_Gln303insHis) GRCh37: Chr3:93761965-93761966 GRCh38: Chr3:94043121-94043122	ARL13B		Joubert syndrome 8	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 149349399.	NM_001174150.2(ARL13B):c.360A>G (p.Ile120Met) GRCh37: Chr3:93722732 GRCh38: Chr3:94003888	ARL13B	I105M, I120M, I17M	Joubert syndrome 8	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 1490527100.	NM_001174150.2(ARL13B):c.834A>T (p.Gln278His) GRCh37: Chr3:93761894 GRCh38: Chr3:94043050	ARL13B	Q278H, Q263H, Q171H, Q175H	Joubert syndrome 8	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 3