ClinVar for MedGen (Select 332931) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 299

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25843701.	NM_001134831.2(AHI1):c.2266+1G>A GRCh37: Chr6:135754164 GRCh38: Chr6:135433026	AHI1		Joubert syndrome 3	Pathogenic (Sep 5, 2023)	criteria provided, single submitter
Select item 25766182.	NM_001134831.2(AHI1):c.2283del (p.Gly762fs) GRCh37: Chr6:135752436 GRCh38: Chr6:135431298	AHI1	G762fs	Joubert syndrome 3	Pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 24421963.	NM_001134831.2(AHI1):c.3140del (p.Asn1047fs) GRCh37: Chr6:135679295 GRCh38: Chr6:135358157	AHI1	N1047fs	Joubert syndrome 3	Likely pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 24389444.	NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr) GRCh37: Chr6:135763764 GRCh38: Chr6:135442626	AHI1	I623T	Joubert syndrome 3, Inborn genetic diseases	Uncertain significance (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18032615.	NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs) GRCh37: Chr6:135715917-135715918 GRCh38: Chr6:135394779-135394780	AHI1	Q1035fs	Joubert syndrome 3	Likely pathogenic (Jul 3, 2020)	criteria provided, single submitter
Select item 16994726.	NM_001134831.2(AHI1):c.2036+6T>G GRCh37: Chr6:135759507 GRCh38: Chr6:135438369	AHI1		Joubert syndrome 3	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 16704057.	NM_001134831.2(AHI1):c.1516C>A (p.Arg506=) GRCh37: Chr6:135769538 GRCh38: Chr6:135448400	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Likely benign (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16371278.	NM_001134831.2(AHI1):c.1683G>A (p.Val561=) GRCh37: Chr6:135768242 GRCh38: Chr6:135447104	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Likely benign (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16366739.	NM_001134831.2(AHI1):c.3588+15A>T GRCh37: Chr6:135611546 GRCh38: Chr6:135290408	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161080310.	NM_001134831.2(AHI1):c.1149T>C (p.Asp383=) GRCh37: Chr6:135778634 GRCh38: Chr6:135457496	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160882611.	NM_001134831.2(AHI1):c.190-17A>G GRCh37: Chr6:135787528 GRCh38: Chr6:135466390	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Likely benign (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160854212.	NM_001134831.2(AHI1):c.3329-20A>G GRCh37: Chr6:135639774 GRCh38: Chr6:135318636	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Likely benign (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159802713.	NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) GRCh37: Chr6:135776946 GRCh38: Chr6:135455808	AHI1	I424V	Joubert syndrome 3, Familial aplasia of the vermis	Benign/Likely benign (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158199314.	NM_001134831.2(AHI1):c.1494A>G (p.Leu498=) GRCh37: Chr6:135769560 GRCh38: Chr6:135448422	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Likely benign (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153275815.	NM_001134831.2(AHI1):c.2623+12T>C GRCh37: Chr6:135749755 GRCh38: Chr6:135428617	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151732816.	NM_001134831.2(AHI1):c.3485+6C>T GRCh37: Chr6:135621632 GRCh38: Chr6:135300494	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151715217.	NM_001134831.2(AHI1):c.281C>T (p.Thr94Met) GRCh37: Chr6:135787420 GRCh38: Chr6:135466282	AHI1	T94M	Familial aplasia of the vermis, Inborn genetic diseases, Joubert syndrome 3	Conflicting interpretations of pathogenicity (Aug 20, 2023)	criteria provided, conflicting interpretations
Select item 151637918.	NM_001134831.2(AHI1):c.145A>G (p.Ile49Val) GRCh37: Chr6:135788763 GRCh38: Chr6:135467625	AHI1	I49V	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150757819.	NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) GRCh37: Chr6:135749838 GRCh38: Chr6:135428700	AHI1	L851S	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150429120.	NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu) GRCh37: Chr6:135778788 GRCh38: Chr6:135457650	AHI1	P332L	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149854521.	NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) GRCh37: Chr6:135788750 GRCh38: Chr6:135467612	AHI1	L53R	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147985322.	NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) GRCh37: Chr6:135749770 GRCh38: Chr6:135428632	AHI1	T874A	Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146769323.	NM_001134831.2(AHI1):c.3426+6T>A GRCh37: Chr6:135639651 GRCh38: Chr6:135318513	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145872224.	NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) GRCh37: Chr6:135787167-135787168 GRCh38: Chr6:135466029-135466030	AHI1	E178fs	Familial aplasia of the vermis, Joubert syndrome 3	Pathogenic/Likely pathogenic (Jul 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144077025.	NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) GRCh37: Chr6:135754171 GRCh38: Chr6:135433033	AHI1	T754A	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143635526.	NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu) GRCh37: Chr6:135732634 GRCh38: Chr6:135411496	AHI1	P938L	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142415227.	NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) GRCh37: Chr6:135751081 GRCh38: Chr6:135429943	AHI1	N811D	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142353028.	NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) GRCh37: Chr6:135759544 GRCh38: Chr6:135438406	AHI1	I669V	Joubert syndrome 3, Familial aplasia of the vermis, Inborn genetic diseases	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142221829.	NM_001134831.2(AHI1):c.1420del (p.Ile474fs) GRCh37: Chr6:135774499 GRCh38: Chr6:135453361	AHI1	I474fs	Inborn genetic diseases, Joubert syndrome 3, Familial aplasia of the vermis	Pathogenic (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141942730.	NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg) GRCh37: Chr6:135732610 GRCh38: Chr6:135411472	AHI1	Q946R	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141500531.	NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr) GRCh37: Chr6:135787148 GRCh38: Chr6:135466010	AHI1	D185Y	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141117532.	NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) GRCh37: Chr6:135752452 GRCh38: Chr6:135431314	AHI1	G756A	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139659333.	NM_001134831.2(AHI1):c.2795G>A (p.Arg932His) GRCh37: Chr6:135732652 GRCh38: Chr6:135411514	AHI1	R932H	Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139066234.	NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) GRCh37: Chr6:135715953 GRCh38: Chr6:135394815	AHI1	A1024T	Inborn genetic diseases, Familial aplasia of the vermis, Joubert syndrome 3	Conflicting interpretations of pathogenicity (May 5, 2023)	criteria provided, conflicting interpretations
Select item 139044035.	NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) GRCh37: Chr6:135644392 GRCh38: Chr6:135323254	AHI1	R1079Q	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138933436.	NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) GRCh37: Chr6:135639754 GRCh38: Chr6:135318616	AHI1	T1110I	not provided, Inborn genetic diseases, Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138393337.	NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) GRCh37: Chr6:135776916 GRCh38: Chr6:135455778	AHI1	L434F	Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138364238.	NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp) GRCh37: Chr6:135777060 GRCh38: Chr6:135455922	AHI1	R386W	Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137529439.	NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr) GRCh37: Chr6:135644350 GRCh38: Chr6:135323212	AHI1	I1093T	Inborn genetic diseases, Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137087640.	NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) GRCh37: Chr6:135763830-135763833 GRCh38: Chr6:135442692-135442695	AHI1	K600fs	Familial aplasia of the vermis, Joubert syndrome 3	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 135920241.	NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) GRCh37: Chr6:135752411 GRCh38: Chr6:135431273	AHI1	V770I	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135689542.	NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser) GRCh37: Chr6:135759625 GRCh38: Chr6:135438487	AHI1	P642S	Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 135256443.	NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) GRCh37: Chr6:135759538 GRCh38: Chr6:135438400	AHI1	T671A	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (May 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134727744.	NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) GRCh37: Chr6:135776906 GRCh38: Chr6:135455768	AHI1	S437F	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133900045.	NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys) GRCh37: Chr6:135759616 GRCh38: Chr6:135438478	AHI1	R645C	Joubert syndrome 3	Uncertain significance	criteria provided, single submitter
Select item 132297446.	NM_001134831.2(AHI1):c.1094dup (p.Met365fs) GRCh37: Chr6:135778688-135778689 GRCh38: Chr6:135457550-135457551	AHI1	M365fs	Joubert syndrome 3	Likely pathogenic (Feb 7, 2022)	criteria provided, single submitter
Select item 132297147.	NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer) GRCh37: Chr6:135774546-135774550 GRCh38: Chr6:135453408-135453412	AHI1		Joubert syndrome 3	Pathogenic (Feb 13, 2019)	criteria provided, single submitter
Select item 132296648.	NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter) GRCh37: Chr6:135778739 GRCh38: Chr6:135457601	AHI1	Y348*	Joubert syndrome 3	Pathogenic (Feb 25, 2019)	criteria provided, single submitter
Select item 132296449.	NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) GRCh37: Chr6:135787388 GRCh38: Chr6:135466250	AHI1	Q105*	Joubert syndrome 3	Pathogenic (Jun 29, 2020)	criteria provided, single submitter
Select item 132295950.	NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) GRCh37: Chr6:135715963-135715964 GRCh38: Chr6:135394825-135394826	AHI1	N1020fs	not provided, Familial aplasia of the vermis, Joubert syndrome 3	Pathogenic/Likely pathogenic (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131343351.	NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) GRCh37: Chr6:135748431 GRCh38: Chr6:135427293	AHI1	M880V	not provided, Familial aplasia of the vermis, Inborn genetic diseases, Joubert syndrome 3	Uncertain significance (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 130289652.	NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) GRCh37: Chr6:135784316 GRCh38: Chr6:135463178	AHI1	M293T	Joubert syndrome 3, not provided, Familial aplasia of the vermis	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130289553.	NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) GRCh37: Chr6:135787370 GRCh38: Chr6:135466232	AHI1	P111S	Familial aplasia of the vermis, Joubert syndrome 3, not provided	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121381554.	NM_001134831.2(AHI1):c.430del (p.Glu144fs) GRCh37: Chr6:135787271 GRCh38: Chr6:135466133	AHI1	E144fs	Joubert syndrome 3	Likely pathogenic (Sep 23, 2020)	criteria provided, single submitter
Select item 118886455.	NM_001134831.2(AHI1):c.2037-77G>A GRCh37: Chr6:135754471 GRCh38: Chr6:135433333	AHI1		Joubert syndrome 3, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117915956.	GRCh37/hg19 6q23.3(chr6:135715893-135732702) GRCh37: Chr6:135715893-135732702	AHI1		Joubert syndrome 3	Likely pathogenic	no assertion criteria provided
Select item 115268557.	NM_001134831.2(AHI1):c.2718A>G (p.Ala906=) GRCh37: Chr6:135748351 GRCh38: Chr6:135427213	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114359558.	NM_001134831.2(AHI1):c.931+8A>G GRCh37: Chr6:135784255 GRCh38: Chr6:135463117	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Likely benign (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111372159.	NM_001134831.2(AHI1):c.2418G>A (p.Leu806=) GRCh37: Chr6:135751094 GRCh38: Chr6:135429956	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110027960.	NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=) GRCh37: Chr6:135759632 GRCh38: Chr6:135438494	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Likely benign (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107852561.	NM_001134831.2(AHI1):c.135+19G>A GRCh37: Chr6:135811742 GRCh38: Chr6:135490604	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107822162.	NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=) GRCh37: Chr6:135644343 GRCh38: Chr6:135323205	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106572163.	NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) GRCh37: Chr6:135644393 GRCh38: Chr6:135323255	AHI1	R1079*	Joubert syndrome 3, Familial aplasia of the vermis, Rod-cone dystrophy	Pathogenic/Likely pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106458864.	NM_001134831.2(AHI1):c.2492+5G>A GRCh37: Chr6:135751015 GRCh38: Chr6:135429877	AHI1		Joubert syndrome 3	Likely pathogenic	criteria provided, single submitter
Select item 106438865.	NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys) GRCh37: Chr6:135777041 GRCh38: Chr6:135455903	AHI1	Y392C	Joubert syndrome 3, Inborn genetic diseases, Familial aplasia of the vermis	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106086866.	NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val) GRCh37: Chr6:135749839 GRCh38: Chr6:135428701	AHI1	L851V	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105983367.	NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala) GRCh37: Chr6:135787469 GRCh38: Chr6:135466331	AHI1	T78A	Joubert syndrome 3, Familial aplasia of the vermis, Inborn genetic diseases	Uncertain significance (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105680968.	NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser) GRCh37: Chr6:135763773 GRCh38: Chr6:135442635	AHI1	N620S	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105577069.	NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) GRCh37: Chr6:135751105 GRCh38: Chr6:135429967	AHI1	I803V	Familial aplasia of the vermis, not provided, Joubert syndrome 3	Uncertain significance (Jul 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105276070.	NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr) GRCh37: Chr6:135754392 GRCh38: Chr6:135433254	AHI1	I680T	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104284771.	NM_001134831.2(AHI1):c.191C>A (p.Pro64His) GRCh37: Chr6:135787510 GRCh38: Chr6:135466372	AHI1	P64H	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104176372.	NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) GRCh37: Chr6:135639710 GRCh38: Chr6:135318572	AHI1	P1125S	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103931273.	NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) GRCh37: Chr6:135754228 GRCh38: Chr6:135433090	AHI1	I735V	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103881374.	NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) GRCh37: Chr6:135732574 GRCh38: Chr6:135411436	AHI1	Q958R	Familial aplasia of the vermis, not provided, Joubert syndrome 3	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 103872675.	NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) GRCh37: Chr6:135748308 GRCh38: Chr6:135427170	AHI1	H921Y	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103385176.	NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr) GRCh37: Chr6:135769433 GRCh38: Chr6:135448295	AHI1	D541Y	Joubert syndrome 3	Uncertain significance (Sep 7, 2018)	criteria provided, single submitter
Select item 102963177.	NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) GRCh37: Chr6:135787339 GRCh38: Chr6:135466201	AHI1	K121R	Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102963078.	NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter) GRCh37: Chr6:135752358 GRCh38: Chr6:135431220	AHI1	W787*	Joubert syndrome 3	Pathogenic (Jan 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102239879.	NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) GRCh37: Chr6:135749886 GRCh38: Chr6:135428748	AHI1	R835K	not provided, Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102039280.	NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) GRCh37: Chr6:135776874 GRCh38: Chr6:135455736	AHI1	E448K	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101408081.	NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) GRCh37: Chr6:135621690 GRCh38: Chr6:135300552	AHI1	I1145V	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100874082.	NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) GRCh37: Chr6:135763741 GRCh38: Chr6:135442603	AHI1	R631W	not provided, Joubert syndrome 3, Familial aplasia of the vermis, Inborn genetic diseases	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 100186283.	NM_001134831.2(AHI1):c.971A>G (p.His324Arg) GRCh37: Chr6:135778812 GRCh38: Chr6:135457674	AHI1	H324R	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100012384.	NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) GRCh37: Chr6:135611561 GRCh38: Chr6:135290423	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98471885.	NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) GRCh37: Chr6:135763804 GRCh38: Chr6:135442666	AHI1	R610*	Joubert syndrome 3, Familial aplasia of the vermis	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97547886.	NM_001134831.2(AHI1):c.1270del (p.Ile424fs) GRCh37: Chr6:135776946 GRCh38: Chr6:135455808	AHI1	I424fs	Joubert syndrome 3	Likely pathogenic (Jan 1, 2019)	no assertion criteria provided
Select item 97547787.	NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) GRCh37: Chr6:135754165 GRCh38: Chr6:135433027	AHI1	G756C	Familial aplasia of the vermis	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 97375888.	NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) GRCh37: Chr6:135778635 GRCh38: Chr6:135457497	AHI1	D383G	Joubert syndrome 3	Likely pathogenic	criteria provided, single submitter
Select item 96939689.	NM_001134831.2(AHI1):c.1303C>A (p.Arg435=) GRCh37: Chr6:135776913 GRCh38: Chr6:135455775	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 96522290.	NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro) GRCh37: Chr6:135787216 GRCh38: Chr6:135466078	AHI1	Q162P	Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95841391.	NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu) GRCh37: Chr6:135752434 GRCh38: Chr6:135431296	AHI1	G762E	Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Jan 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95479992.	NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln) GRCh37: Chr6:135751023 GRCh38: Chr6:135429885	AHI1	R830Q	Inborn genetic diseases, Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95468093.	NM_001134831.2(AHI1):c.853A>G (p.Met285Val) GRCh37: Chr6:135784341 GRCh38: Chr6:135463203	AHI1	M285V	Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94011594.	NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) GRCh37: Chr6:135679278 GRCh38: Chr6:135358140	AHI1	A1053T	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93969895.	NM_001134831.2(AHI1):c.2492+3A>G GRCh37: Chr6:135751017 GRCh38: Chr6:135429879	AHI1		Familial aplasia of the vermis, Joubert syndrome 3, not provided	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93842796.	NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) GRCh37: Chr6:135788744 GRCh38: Chr6:135467606	AHI1	Y55C	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93766797.	NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) GRCh37: Chr6:135749889 GRCh38: Chr6:135428751	AHI1	A834V	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93605598.	NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) GRCh37: Chr6:135787217 GRCh38: Chr6:135466079	AHI1	Q162*	Joubert syndrome 3, Familial aplasia of the vermis	Pathogenic/Likely pathogenic (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91791499.	NM_001134831.2(AHI1):c.2037-1G>C GRCh37: Chr6:135754395 GRCh38: Chr6:135433257	AHI1		Joubert syndrome 3	Likely pathogenic	no assertion criteria provided
Select item 917913100.	NM_001134831.2(AHI1):c.1326del (p.Val443fs) GRCh37: Chr6:135776890 GRCh38: Chr6:135455752	AHI1	V443fs	Joubert syndrome 3	Pathogenic (Feb 23, 2023)	criteria provided, single submitter

<< First< Prev

Page of 3