ClinVar for Gene (Select 54903) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183030	NM_017777.4(MKS1):c.748A>G (p.Arg250Gly)	MKS1 (R47G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059574	NM_017777.4(MKS1):c.262-89T>C	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition	GLikely benign
Select item 3059459	R11S	MKS1 (R11S)	Single nucleotide variant	MKS1-related condition	GLikely benign
Select item 3059164	NM_017777.4(MKS1):c.262-90G>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition	GLikely benign
Select item 3058941	NM_017777.4(MKS1):c.262-151T>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition	GLikely benign
Select item 3054692	NM_017777.4(MKS1):c.*76G>A	MKS1 (R558H)	Single nucleotide variant (3 prime UTR variant +1 more)	MKS1-related condition	GUncertain significance
Select item 3045928	NM_017777.4(MKS1):c.1229A>G (p.Tyr410Cys)	MKS1 (Y207C +1 more)	Single nucleotide variant (missense variant)	MKS1-related condition	GUncertain significance
Select item 3045715	NM_017777.4(MKS1):c.682C>T (p.Leu228=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related condition	GLikely benign
Select item 3045330	NM_017777.4(MKS1):c.262-42del	MKS1	Deletion (intron variant)	MKS1-related condition	GLikely benign
Select item 3044418	NM_017777.4(MKS1):c.262-84C>T	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition	GLikely benign
Select item 3044387	NM_017777.4(MKS1):c.*96C>T	MKS1	Single nucleotide variant (3 prime UTR variant)	MKS1-related condition	GLikely benign
Select item 3043711	NM_017777.4(MKS1):c.262-160T>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition	GLikely benign
Select item 3042431	NM_017777.4(MKS1):c.262-69_262-68dup	MKS1	Duplication (intron variant)	MKS1-related condition	GLikely benign
Select item 3042199	NM_017777.4(MKS1):c.262-101_262-100del	MKS1	Deletion (intron variant)	MKS1-related condition	GLikely benign
Select item 3040553	NM_017777.4(MKS1):c.262-62_262-40del	MKS1	Deletion (intron variant)	MKS1-related condition	GLikely benign
Select item 3037883	NM_017777.4(MKS1):c.*58G>C	MKS1 (S552T)	Single nucleotide variant (3 prime UTR variant +1 more)	MKS1-related condition	GLikely benign
Select item 3037796	NM_017777.4(MKS1):c.262-148C>T	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition	GLikely benign
Select item 3030604	NM_017777.4(MKS1):c.262-48A>T	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition	GLikely benign
Select item 3030215	NM_017777.4(MKS1):c.262-128G>A	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition	GLikely benign
Select item 3030065	Single allele	MKS1	Single nucleotide variant	MKS1-related condition	GLikely benign
Select item 2954491	NM_017777.4(MKS1):c.1284C>G (p.Thr428=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2954282	NM_017777.4(MKS1):c.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG	MKS1	Indel (splice donor variant +1 more)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2954095	NM_017777.4(MKS1):c.1490+8A>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2954094	NM_017777.4(MKS1):c.1490+15C>A	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2954093	NM_017777.4(MKS1):c.1490+17T>A	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953922	NM_017777.4(MKS1):c.191-17C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953357	NM_017777.4(MKS1):c.858+17T>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953302	NM_017777.4(MKS1):c.1028G>A (p.Trp343Ter)	MKS1 (W140* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2953241	NM_017777.4(MKS1):c.262-13A>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952712	NM_017777.4(MKS1):c.749+18G>C	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952622	NM_017777.4(MKS1):c.750-15G>C	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951891	NM_017777.4(MKS1):c.528_644+12del	MKS1	Deletion (splice donor variant +1 more)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2951736	NM_017777.4(MKS1):c.1096-20del	MKS1	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951380	NM_017777.4(MKS1):c.1532_1533insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGGATGCGGAG (p.Ser511fs)	MKS1 (S308fs +2 more)	Insertion (frameshift variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2951308	NM_017777.4(MKS1):c.1588+10del	MKS1	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GBenign
Select item 2951132	NM_017777.4(MKS1):c.1589-19A>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951011	NM_017777.4(MKS1):c.1273+13C>A	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950996	NM_017777.4(MKS1):c.262-10G>C	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950697	NM_017777.4(MKS1):c.1353C>G (p.Gly451=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950389	NM_017777.4(MKS1):c.81-2A>G	MKS1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2950340	NM_017777.4(MKS1):c.959-7C>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950172	NM_017777.4(MKS1):c.1273+18C>A	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950156	NM_017777.4(MKS1):c.1026C>T (p.His342=)	MKS1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950126	NM_017777.4(MKS1):c.1166-11C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949890	NM_017777.4(MKS1):c.318G>A (p.Gln106=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949870	NM_017777.4(MKS1):c.1273+10C>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949833	NM_017777.4(MKS1):c.111dup (p.Phe38fs)	MKS1 (F38fs)	Duplication (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2949483	NM_017777.4(MKS1):c.876G>A (p.Lys292=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2949048	NM_017777.4(MKS1):c.80+11del	LOC130061271, MKS1	Deletion (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2949009	NM_017777.4(MKS1):c.285T>C (p.Asn95=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2948589	NM_017777.4(MKS1):c.1096-10C>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2948525	NM_017777.4(MKS1):c.1165+18T>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2947986	NM_017777.4(MKS1):c.1025-2A>G	MKS1	Single nucleotide variant (splice acceptor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 2947053	NM_017777.4(MKS1):c.921C>G (p.Val307=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2947027	NM_017777.4(MKS1):c.1491-8C>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2946994	NM_017777.4(MKS1):c.1589-15C>G	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2946682	NM_017777.4(MKS1):c.1116C>T (p.Ser372=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2946493	NM_017777.4(MKS1):c.1491-17G>T	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2946492	NM_017777.4(MKS1):c.1491-15C>G	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2946454	NM_017777.4(MKS1):c.958+18A>G	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2946413	NM_017777.4(MKS1):c.190+15G>T	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2946345	NM_017777.4(MKS1):c.1273+17G>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2946221	NM_017777.4(MKS1):c.859-5C>T	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2945909	NM_017777.4(MKS1):c.624A>G (p.Ala208=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2945888	NM_017777.4(MKS1):c.1096-20T>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2945819	NM_017777.4(MKS1):c.80+16C>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2945808	NM_017777.4(MKS1):c.165C>A (p.Ala55=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2944911	NM_017777.4(MKS1):c.1166-5C>T	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2944834	NM_017777.4(MKS1):c.1408-21T>G	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2944723	NM_017777.4(MKS1):c.2T>A (p.Met1Lys)	LOC130061271, MKS1 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2944619	NM_017777.4(MKS1):c.262-12T>C	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2944248	NM_017777.4(MKS1):c.80+17A>G	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2944239	NM_017777.4(MKS1):c.297T>A (p.Cys99Ter)	MKS1 (C99*)	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2944205	NM_017777.4(MKS1):c.663T>G (p.Tyr221Ter)	MKS1 (Y221* +1 more)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2944193	NM_017777.4(MKS1):c.918T>G (p.Thr306=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2943806	NM_017777.4(MKS1):c.958+8T>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2943299	NM_017777.4(MKS1):c.1165+7del	MKS1	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2943219	NM_017777.4(MKS1):c.600T>G (p.Pro200=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2942843	NM_017777.4(MKS1):c.492_497del (p.Arg165_Arg166del)	MKS1	Deletion (inframe_deletion +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2942484	NM_017777.4(MKS1):c.1203C>A (p.Val401=)	MKS1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2942176	NM_017777.4(MKS1):c.858+9A>T	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2941859	NM_017777.4(MKS1):c.384C>A (p.Tyr128Ter)	MKS1 (Y128*)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2941730	NM_017777.4(MKS1):c.1408-20G>C	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2941544	NM_017777.4(MKS1):c.135C>G (p.Ala45=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2941496	NM_017777.4(MKS1):c.1408-9A>G	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2941353	NM_017777.4(MKS1):c.1530G>A (p.Arg510=)	MKS1 (E483K +1 more)	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2941184	NM_017777.4(MKS1):c.744C>T (p.Pro248=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2941170	NM_017777.4(MKS1):c.516-5C>A	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2941109	NM_017777.4(MKS1):c.80+10C>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2939925	NM_017777.4(MKS1):c.657G>A (p.Lys219=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2939838	NM_017777.4(MKS1):c.515+9G>T	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2939617	NM_017777.4(MKS1):c.1050G>A (p.Gln350=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2939481	NM_017777.4(MKS1):c.135C>T (p.Ala45=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2939335	NM_017777.4(MKS1):c.645-13del	MKS1	Deletion (intron variant)	Meckel-Gruber syndrome +1 more	GBenign
Select item 2939186	NM_017777.4(MKS1):c.1274-7T>C	MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2939154	NM_017777.4(MKS1):c.705G>T (p.Val235=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2939090	NM_017777.4(MKS1):c.427A>C (p.Arg143=)	MKS1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2937713	NM_017777.4(MKS1):c.80+11C>G	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2937681	NM_017777.4(MKS1):c.80+7G>T	LOC130061271, MKS1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2937315	NM_017777.4(MKS1):c.1590G>A (p.Glu530=)	MKS1 (G503S)	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign

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