ClinVar for MedGen (Select 811346) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022091.	NM_017777.4(MKS1):c.396T>G (p.Asp132Glu) GRCh37: Chr17:56293470 GRCh38: Chr17:58216109	MKS1	D132E	Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 25021642.	NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr) GRCh37: Chr17:56285468 GRCh38: Chr17:58208107	MKS1	S185Y, S388Y	Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 24981313.	NM_017777.4(MKS1):c.1407+66G>A GRCh37: Chr17:56284380 GRCh38: Chr17:58207019	MKS1		Meckel syndrome, type 1	Uncertain significance (Mar 19, 2021)	criteria provided, single submitter
Select item 18783894.	NM_017777.4(MKS1):c.868_871del (p.Arg290fs) GRCh37: Chr17:56289783-56289786 GRCh38: Chr17:58212422-58212425	MKS1	R290fs, R87fs	Meckel syndrome, type 1	Likely pathogenic (Dec 4, 2022)	criteria provided, single submitter
Select item 18026005.	NM_017777.4(MKS1):c.[1115_1117del;1476T>G] GRCh37: Chr17:56283840 Chr17:56285514-56285516 GRCh38: Chr17:58206479 Chr17:58208153-58208155	MKS1, MKS1	C492W, C289W, S372del, S169del	Bardet-Biedl syndrome 13	Likely pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 17268236.	NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter) GRCh37: Chr17:56284470 GRCh38: Chr17:58207109	MKS1	Y258, Y461	Bardet-Biedl syndrome 13, Joubert syndrome 28, Meckel syndrome, type 1	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17265607.	NM_017777.4(MKS1):c.992del (p.Tyr331fs) GRCh37: Chr17:56288052 GRCh38: Chr17:58210691	MKS1	Y128fs, Y331fs	Bardet-Biedl syndrome 13, Joubert syndrome 28, Meckel syndrome, type 1	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 17263168.	NM_017777.4(MKS1):c.946_947del (p.Asn316fs) GRCh37: Chr17:56288352-56288353 GRCh38: Chr17:58210991-58210992	MKS1	N113fs, N316fs	Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 17260379.	NM_017777.4(MKS1):c.832G>T (p.Glu278Ter) GRCh37: Chr17:56290369 GRCh38: Chr17:58213008	MKS1	E278, E75	Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Likely pathogenic (May 8, 2022)	criteria provided, single submitter
Select item 172601210.	NM_017777.4(MKS1):c.727_728del (p.Thr243fs) GRCh37: Chr17:56291147-56291148 GRCh38: Chr17:58213786-58213787	MKS1	T243fs, T40fs	Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 172601011.	NM_017777.4(MKS1):c.715_716del (p.Lys239fs) GRCh37: Chr17:56291159-56291160 GRCh38: Chr17:58213798-58213799	MKS1	K239fs, K36fs	Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 172569012.	NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter) GRCh37: Chr17:56283836 GRCh38: Chr17:58206475	MKS1	Q291, Q494	Meckel syndrome, type 1, Joubert syndrome 28, Bardet-Biedl syndrome 13, Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 172513913.	NM_017777.4(MKS1):c.782G>A (p.Trp261Ter) GRCh37: Chr17:56290419 GRCh38: Chr17:58213058	MKS1	W261, W58	Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Likely pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 172513514.	NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter) GRCh37: Chr17:56288035 GRCh38: Chr17:58210674	MKS1	E134, E337	Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 172501615.	NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs) GRCh37: Chr17:56285934-56285937 GRCh38: Chr17:58208573-58208576	MKS1	S142fs, S345fs	Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 172501216.	NM_017777.4(MKS1):c.435del (p.Thr146fs) GRCh37: Chr17:56292182 GRCh38: Chr17:58214821	MKS1	T146fs	Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172497617.	NM_017777.4(MKS1):c.537_538del (p.Arg180fs) GRCh37: Chr17:56291726-56291727 GRCh38: Chr17:58214365-58214366	MKS1	R180fs	Joubert syndrome 28, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172450418.	NM_017777.4(MKS1):c.241C>T (p.Gln81Ter) GRCh37: Chr17:56294047 GRCh38: Chr17:58216686	MKS1	Q81*	Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172438519.	NM_017777.4(MKS1):c.949G>T (p.Gly317Ter) GRCh37: Chr17:56288350 GRCh38: Chr17:58210989	MKS1	G114, G317	Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 172435620.	NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs) GRCh37: Chr17:56283904-56283905 GRCh38: Chr17:58206543-58206544	MKS1	E268fs, E471fs	Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28	Likely pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 172397321.	NM_017777.4(MKS1):c.632_633del (p.Gly211fs) GRCh37: Chr17:56291631-56291632 GRCh38: Chr17:58214270-58214271	MKS1	G211fs, G8fs	Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 138795522.	NM_017777.4(MKS1):c.1071del (p.Cys358fs) GRCh37: Chr17:56285898 GRCh38: Chr17:58208537	MKS1	C155fs, C358fs	Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28, Meckel-Gruber syndrome, Familial aplasia of the vermis	Pathogenic/Likely pathogenic (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137965223.	NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) GRCh37: Chr17:56291217 GRCh38: Chr17:58213856	MKS1	K17, K220	Meckel-Gruber syndrome, Familial aplasia of the vermis, Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28	Pathogenic/Likely pathogenic (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125205924.	NM_017777.4(MKS1):c.1126dup (p.Thr376fs) GRCh37: Chr17:56285504-56285505 GRCh38: Chr17:58208143-58208144	MKS1	T173fs, T376fs	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, not provided	Pathogenic/Likely pathogenic (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119798125.	NM_017777.4(MKS1):c.1529G>A (p.Arg510Gln) GRCh37: Chr17:56283703 GRCh38: Chr17:58206342	MKS1	G438R, R307Q, R510Q	Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107427426.	NM_017777.4(MKS1):c.811del (p.His271fs) GRCh37: Chr17:56290390 GRCh38: Chr17:58213029	MKS1	H271fs, H68fs	Familial aplasia of the vermis, Meckel-Gruber syndrome	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 106672227.	NM_017777.4(MKS1):c.959-5C>A GRCh37: Chr17:56288090 GRCh38: Chr17:58210729	MKS1		Joubert syndrome 28, Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1	Conflicting interpretations of pathogenicity (May 2, 2023)	criteria provided, conflicting interpretations
Select item 106621628.	NM_017777.4(MKS1):c.1273+1G>C GRCh37: Chr17:56285254 GRCh38: Chr17:58207893	MKS1		Bardet-Biedl syndrome 13, Meckel syndrome, type 1, Joubert syndrome 28, Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1	Pathogenic/Likely pathogenic (May 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106072629.	NM_017777.4(MKS1):c.817C>G (p.Gln273Glu) GRCh37: Chr17:56290384 GRCh38: Chr17:58213023	MKS1	Q273E, Q70E	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 105874230.	NM_017777.4(MKS1):c.1507A>G (p.Ser503Gly) GRCh37: Chr17:56283725 GRCh38: Chr17:58206364	MKS1	E475G, S300G, S503G	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 105833531.	NM_017777.4(MKS1):c.791C>T (p.Thr264Met) GRCh37: Chr17:56290410 GRCh38: Chr17:58213049	MKS1	T264M, T61M	Meckel syndrome, type 1, Joubert syndrome 28, Bardet-Biedl syndrome 13, Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105751132.	NM_017777.4(MKS1):c.955G>A (p.Val319Ile) GRCh37: Chr17:56288344 GRCh38: Chr17:58210983	MKS1	V116I, V319I	Meckel syndrome, type 1, Joubert syndrome 28, Bardet-Biedl syndrome 13, Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104375733.	NM_017777.4(MKS1):c.428G>T (p.Arg143Ile) GRCh37: Chr17:56292189 GRCh38: Chr17:58214828	MKS1	R143I	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 104013134.	NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp) GRCh37: Chr17:56284466 GRCh38: Chr17:58207105	MKS1	R260W, R463W	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 103756835.	NM_017777.4(MKS1):c.1613G>T (p.Arg538Leu) GRCh37: Chr17:56283507 GRCh38: Chr17:58206146	MKS1	R335L, R538L	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 103679836.	NM_017777.4(MKS1):c.1408-5C>T GRCh37: Chr17:56283913 GRCh38: Chr17:58206552	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 102805437.	NM_017777.4(MKS1):c.497G>A (p.Arg166Gln) GRCh37: Chr17:56292120 GRCh38: Chr17:58214759	MKS1	R166Q	Meckel syndrome, type 1, Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102384438.	NM_017777.4(MKS1):c.229G>A (p.Val77Met) GRCh37: Chr17:56294059 GRCh38: Chr17:58216698	MKS1	V77M	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Sep 21, 2021)	criteria provided, single submitter
Select item 102340639.	NM_017777.4(MKS1):c.1477C>A (p.Leu493Met) GRCh37: Chr17:56283839 GRCh38: Chr17:58206478	MKS1	L290M, L493M	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 101887140.	NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys) GRCh37: Chr17:56291626 GRCh38: Chr17:58214265	MKS1	Y10C, Y213C	not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101373641.	NM_017777.4(MKS1):c.1567A>G (p.Ser523Gly) GRCh37: Chr17:56283665 GRCh38: Chr17:58206304	MKS1	E495G, S320G, S523G	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100089642.	NM_017777.4(MKS1):c.586G>A (p.Val196Ile) GRCh37: Chr17:56291678 GRCh38: Chr17:58214317	MKS1	V196I	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 99112443.	NM_017777.4(MKS1):c.81-3C>A GRCh37: Chr17:56296093 GRCh38: Chr17:58218732	MKS1		Meckel syndrome, type 1	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 97158844.	NM_017777.4(MKS1):c.1671G>A (p.Leu557=) GRCh37: Chr17:56283449 GRCh38: Chr17:58206088	MKS1	G530S	Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97015945.	NM_017777.4(MKS1):c.200G>A (p.Arg67His) GRCh37: Chr17:56294088 GRCh38: Chr17:58216727	MKS1	R67H	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 97011446.	NM_017777.4(MKS1):c.1610G>A (p.Arg537His) GRCh37: Chr17:56283510 GRCh38: Chr17:58206149	MKS1	R537H, R334H	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 96987847.	NM_017777.4(MKS1):c.1007T>C (p.Val336Ala) GRCh37: Chr17:56288037 GRCh38: Chr17:58210676	MKS1	V336A, V133A	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 96504448.	NM_017777.4(MKS1):c.1127C>T (p.Thr376Met) GRCh37: Chr17:56285504 GRCh38: Chr17:58208143	MKS1	T376M, T173M	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 96476149.	NM_017777.4(MKS1):c.835C>T (p.Arg279Trp) GRCh37: Chr17:56290366 GRCh38: Chr17:58213005	MKS1	R279W, R76W	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 96159850.	NM_017777.4(MKS1):c.473G>A (p.Arg158Gln) GRCh37: Chr17:56292144 GRCh38: Chr17:58214783	MKS1	R158Q	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 95943651.	NM_017777.4(MKS1):c.821C>T (p.Pro274Leu) GRCh37: Chr17:56290380 GRCh38: Chr17:58213019	MKS1	P274L, P71L	Familial aplasia of the vermis, Meckel-Gruber syndrome	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 94911352.	NM_017777.4(MKS1):c.634C>A (p.Pro212Thr) GRCh37: Chr17:56291630 GRCh38: Chr17:58214269	MKS1	P212T, P9T	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 94852653.	NM_017777.4(MKS1):c.1534G>A (p.Val512Met) GRCh37: Chr17:56283698 GRCh38: Chr17:58206337	MKS1	V512M, C484Y, V309M	not provided, Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94840754.	NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) GRCh37: Chr17:56285306 GRCh38: Chr17:58207945	MKS1	Q408, Q205	Meckel syndrome, type 1, Joubert syndrome 28, Bardet-Biedl syndrome 13, Meckel-Gruber syndrome, Familial aplasia of the vermis	Pathogenic/Likely pathogenic (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94662455.	NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu) GRCh37: Chr17:56283688 GRCh38: Chr17:58206327	MKS1	R312L, V443F, R515L	Meckel-Gruber syndrome, Familial aplasia of the vermis, Inborn genetic diseases	Uncertain significance (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94335756.	NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe) GRCh37: Chr17:56285332 GRCh38: Chr17:58207971	MKS1	C196F, C399F	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 94035157.	NM_017777.4(MKS1):c.836G>A (p.Arg279Gln) GRCh37: Chr17:56290365 GRCh38: Chr17:58213004	MKS1	R76Q, R279Q	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 93830758.	NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu) GRCh37: Chr17:56285510 GRCh38: Chr17:58208149	MKS1	P374L, P171L	Inborn genetic diseases, Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93636159.	NM_017777.4(MKS1):c.1613G>A (p.Arg538His) GRCh37: Chr17:56283507 GRCh38: Chr17:58206146	MKS1	R538H, R335H	Meckel syndrome, type 1, Joubert syndrome 28, Bardet-Biedl syndrome 13, Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93550160.	NM_017777.4(MKS1):c.847G>C (p.Val283Leu) GRCh37: Chr17:56290354 GRCh38: Chr17:58212993	MKS1	V283L, V80L	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 91794961.	NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) GRCh37: Chr17:56293499 GRCh38: Chr17:58216138	MKS1	R123*	Meckel-Gruber syndrome, Familial aplasia of the vermis	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 89246262.	NM_017777.4(MKS1):c.10A>T (p.Thr4Ser) GRCh37: Chr17:56296582 GRCh38: Chr17:58219221	MKS1	T4S	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89235963.	NM_017777.4(MKS1):c.1408-15A>G GRCh37: Chr17:56283923 GRCh38: Chr17:58206562	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 89230764.	NM_017777.4(MKS1):c.*415G>A GRCh37: Chr17:56283025 GRCh38: Chr17:58205664	MKS1		Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89230665.	NM_017777.4(MKS1):c.*472C>G GRCh37: Chr17:56282968 GRCh38: Chr17:58205607	MKS1		Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89116266.	NM_017777.4(MKS1):c.1589-3C>T GRCh37: Chr17:56283534 GRCh38: Chr17:58206173	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89109867.	NM_017777.4(MKS1):c.*594T>G GRCh37: Chr17:56282846 GRCh38: Chr17:58205485	MKS1		Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89109768.	NM_017777.4(MKS1):c.*603T>G GRCh37: Chr17:56282837 GRCh38: Chr17:58205476	MKS1		Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89060969.	NM_017777.4(MKS1):c.1598G>A (p.Arg533His) GRCh37: Chr17:56283522 GRCh38: Chr17:58206161	MKS1	R533H, R330H	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89060870.	NM_017777.4(MKS1):c.*49C>A GRCh37: Chr17:56283391 GRCh38: Chr17:58206030	MKS1	S549Y	Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88971771.	NM_017777.4(MKS1):c.407A>C (p.Asn136Thr) GRCh37: Chr17:56293459 GRCh38: Chr17:58216098	MKS1	N136T	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88971672.	NM_017777.4(MKS1):c.447C>T (p.Ser149=) GRCh37: Chr17:56292170 GRCh38: Chr17:58214809	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88908273.	NM_017777.4(MKS1):c.-20C>G GRCh37: Chr17:56296611 GRCh38: Chr17:58219250	MKS1		Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88908174.	NM_017777.4(MKS1):c.-15C>G GRCh37: Chr17:56296606 GRCh38: Chr17:58219245	MKS1		Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88902075.	NM_017777.4(MKS1):c.498G>T (p.Arg166=) GRCh37: Chr17:56292119 GRCh38: Chr17:58214758	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 88896676.	NM_017777.4(MKS1):c.1273+4A>G GRCh37: Chr17:56285251 GRCh38: Chr17:58207890	MKS1		Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88896577.	NM_017777.4(MKS1):c.1273+12T>A GRCh37: Chr17:56285243 GRCh38: Chr17:58207882	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 88891078.	NM_017777.4(MKS1):c.*134C>T GRCh37: Chr17:56283306 GRCh38: Chr17:58205945	MKS1		Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 86311179.	NM_017777.4(MKS1):c.858+6C>T GRCh37: Chr17:56290337 GRCh38: Chr17:58212976	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, not specified	Uncertain significance (Feb 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 86293480.	NM_017777.4(MKS1):c.854A>G (p.Lys285Arg) GRCh37: Chr17:56290347 GRCh38: Chr17:58212986	MKS1	K285R, K82R	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 85382381.	NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) GRCh37: Chr17:56293544 GRCh38: Chr17:58216183	MKS1	R108C	Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28, Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 85299482.	NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro) GRCh37: Chr17:56285879 GRCh38: Chr17:58208518	MKS1	A364P, A161P	Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85143083.	NM_017777.4(MKS1):c.811C>G (p.His271Asp) GRCh37: Chr17:56290390 GRCh38: Chr17:58213029	MKS1	H271D, H68D	Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85061584.	NM_017777.4(MKS1):c.1657C>T (p.Pro553Ser) GRCh37: Chr17:56283463 GRCh38: Chr17:58206102	MKS1	P553S, P350S, P525L	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 83799485.	NM_017777.4(MKS1):c.896T>C (p.Val299Ala) GRCh37: Chr17:56289758 GRCh38: Chr17:58212397	MKS1	V299A, V96A	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 83621886.	NM_017777.4(MKS1):c.1538T>C (p.Leu513Ser) GRCh37: Chr17:56283694 GRCh38: Chr17:58206333	MKS1	W441R, L310S, L513S	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 70134487.	NM_017777.4(MKS1):c.70T>C (p.Leu24=) GRCh37: Chr17:56296522 GRCh38: Chr17:58219161	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 70100388.	NM_017777.4(MKS1):c.1024+10A>G GRCh37: Chr17:56288010 GRCh38: Chr17:58210649	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 70055289.	NM_017777.4(MKS1):c.1233T>C (p.Arg411=) GRCh37: Chr17:56285295 GRCh38: Chr17:58207934	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 70005990.	NM_017777.4(MKS1):c.729G>A (p.Thr243=) GRCh37: Chr17:56291146 GRCh38: Chr17:58213785	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 69858691.	NM_017777.4(MKS1):c.1209G>A (p.Ser403=) GRCh37: Chr17:56285319 GRCh38: Chr17:58207958	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 1, Bardet-Biedl syndrome 13	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 69590692.	NM_017777.4(MKS1):c.1260G>A (p.Leu420=) GRCh37: Chr17:56285268 GRCh38: Chr17:58207907	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, not specified	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65643893.	NM_017777.4(MKS1):c.1414C>G (p.Arg472Gly) GRCh37: Chr17:56283902 GRCh38: Chr17:58206541	MKS1	R269G, R472G	Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 64592194.	NM_017777.4(MKS1):c.1232G>A (p.Arg411His) GRCh37: Chr17:56285296 GRCh38: Chr17:58207935	MKS1	R208H, R411H	Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 59792495.	NM_017777.4(MKS1):c.813C>A (p.His271Gln) GRCh37: Chr17:56290388 GRCh38: Chr17:58213027	MKS1	H271Q, H68Q	Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59697296.	NM_017777.4(MKS1):c.1408-3C>T GRCh37: Chr17:56283911 GRCh38: Chr17:58206550	MKS1		Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59672897.	NM_017777.4(MKS1):c.32G>C (p.Gly11Ala) GRCh37: Chr17:56296560 GRCh38: Chr17:58219199	MKS1	G11A	Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59553398.	NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) GRCh37: Chr17:56284528 GRCh38: Chr17:58207167	MKS1	V442G, V239G	Meckel syndrome, type 1, Bardet-Biedl syndrome 13, Joubert syndrome 28, not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59493899.	NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) GRCh37: Chr17:56283851 GRCh38: Chr17:58206490	MKS1	R489C, R286C	Bardet-Biedl syndrome 13, Joubert syndrome 28, Meckel syndrome, type 1, not provided	Uncertain significance (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 594505100.	NM_017777.4(MKS1):c.83T>C (p.Val28Ala) GRCh37: Chr17:56296088 GRCh38: Chr17:58218727	MKS1	V28A	Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts

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