ClinVar for MedGen (Select 374012) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241205	NM_003659.4(AGPS):c.580delinsCC (p.Ile194fs)	AGPS (I194fs)	Indel (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 3241201	NM_003659.4(AGPS):c.505A>T (p.Lys169Ter)	AGPS (K169*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674965	NM_003659.4(AGPS):c.918_919del (p.Glu306fs)	AGPS (E306fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674962	NM_003659.4(AGPS):c.710-2A>G	AGPS	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674959	NM_003659.4(AGPS):c.1536dup (p.Tyr513fs)	AGPS (Y513fs)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674952	NM_003659.4(AGPS):c.610C>T (p.Arg204Ter)	AGPS (R204*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674943	NM_003659.4(AGPS):c.562+1G>A	AGPS	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674935	NM_003659.4(AGPS):c.301dup (p.Ser101fs)	AGPS (S101fs)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674927	NM_003659.4(AGPS):c.595G>T (p.Glu199Ter)	AGPS (E199*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674919	NM_003659.4(AGPS):c.637+2T>A	AGPS	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674911	NM_003659.4(AGPS):c.1546-84_1591dup	AGPS	Duplication (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674902	NM_003659.4(AGPS):c.557_562+5del	AGPS	Deletion (splice donor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674897	NM_003659.4(AGPS):c.1557_1564del (p.Glu520fs)	AGPS (E520fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674887	NM_003659.4(AGPS):c.1608-1G>A	AGPS	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 2674880	NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)	AGPS (W96*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 1581218	NM_003659.4(AGPS):c.1233+13AT[7]	AGPS	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1333905	NM_003659.4(AGPS):c.1363-2A>T	AGPS	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 1330839	NM_003659.4(AGPS):c.1797+11A>G	AGPS	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1195959	NM_003659.4(AGPS):c.1678G>C (p.Ala560Pro)	AGPS (A560P)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 1184752	NM_003659.4(AGPS):c.1608-95T>A	AGPS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184751	NM_003659.4(AGPS):c.1362+79G>A	AGPS	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GBenign
Select item 1184750	NM_003659.4(AGPS):c.442-64C>T	AGPS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1144853	NM_003659.4(AGPS):c.141C>A (p.Gly47=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1134450	NM_003659.4(AGPS):c.1539C>T (p.Tyr513=)	AGPS	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GLikely benign
Select item 1120083	NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs)	AGPS (E346fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely pathogenic
Select item 1101521	NM_003659.4(AGPS):c.72C>T (p.Asp24=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995618	NM_003659.4(AGPS):c.563-10del	AGPS	Deletion (intron variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GBenign
Select item 991249	NM_003659.4(AGPS):c.1245G>A (p.Pro415=)	AGPS	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GBenign/Likely benign
Select item 944256	NM_003659.4(AGPS):c.544C>T (p.Arg182Ter)	AGPS (R182*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GPathogenic/Likely pathogenic
Select item 894408	NM_003659.4(AGPS):c.*4674A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 894407	NM_003659.4(AGPS):c.*4625C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 894406	NM_003659.4(AGPS):c.*4255T>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely benign
Select item 894405	NM_003659.4(AGPS):c.*4228A>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 894365	NM_003659.4(AGPS):c.*2318A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 894364	NM_003659.4(AGPS):c.*2311G>A	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 894331	NM_003659.4(AGPS):c.*823T>A	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 894330	NM_003659.4(AGPS):c.*794C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 894329	NM_003659.4(AGPS):c.*731A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 894305	NM_003659.4(AGPS):c.774G>A (p.Leu258=)	AGPS	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893999	NM_003659.4(AGPS):c.*4100A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893998	NM_003659.4(AGPS):c.*4056T>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893997	NM_003659.4(AGPS):c.*3971A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893996	NM_003659.4(AGPS):c.*3931A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893967	NM_003659.4(AGPS):c.*1882A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893966	NM_003659.4(AGPS):c.*1880A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893965	NM_003659.4(AGPS):c.*1869T>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893964	NM_003659.4(AGPS):c.*1865C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893940	NM_003659.4(AGPS):c.*385G>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely benign
Select item 893939	NM_003659.4(AGPS):c.*377C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GBenign
Select item 893938	NM_003659.4(AGPS):c.*361C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893911	NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)	AGPS, LOC129935172 (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 893731	NM_003659.4(AGPS):c.*3894A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GBenign
Select item 893730	NM_003659.4(AGPS):c.*3524T>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893699	NM_003659.4(AGPS):c.*1860G>A	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893698	NM_003659.4(AGPS):c.*1858A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893697	NM_003659.4(AGPS):c.*1744A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893696	NM_003659.4(AGPS):c.*1719G>A	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GBenign
Select item 893695	NM_003659.4(AGPS):c.*1469T>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893694	NM_003659.4(AGPS):c.*1424G>A	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 893658	NM_003659.4(AGPS):c.1665G>A (p.Lys555=)	AGPS	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GConflicting classifications of pathogenicity
Select item 893624	NM_003659.4(AGPS):c.14C>T (p.Ala5Val)	AGPS, LOC129935172 (A5V)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 892960	NM_003659.4(AGPS):c.*4788G>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 892959	NM_003659.4(AGPS):c.*4780G>A	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 892922	NM_003659.4(AGPS):c.*2833G>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 892884	NM_003659.4(AGPS):c.*1312T>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 892883	NM_003659.4(AGPS):c.*1238T>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 892882	NM_003659.4(AGPS):c.*1073T>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 892845	NM_003659.4(AGPS):c.1475+12A>G	AGPS	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GConflicting classifications of pathogenicity
Select item 892844	NM_003659.4(AGPS):c.1244C>T (p.Pro415Leu)	AGPS (P415L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 811158	NM_003659.4(AGPS):c.1135A>G (p.Ile379Val)	AGPS (I379V)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 799563	NM_003659.4(AGPS):c.1908T>C (p.Phe636=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 790910	NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)	AGPS, LOC129935172 (R50W)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GConflicting classifications of pathogenicity
Select item 765956	NM_003659.4(AGPS):c.1713C>T (p.Tyr571=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763969	NM_003659.4(AGPS):c.1519C>T (p.Leu507=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 760154	NM_003659.4(AGPS):c.157C>T (p.Leu53=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GBenign/Likely benign
Select item 755357	NM_003659.4(AGPS):c.1209C>T (p.Ala403=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747439	NM_003659.4(AGPS):c.54C>T (p.Ser18=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747115	NM_003659.4(AGPS):c.1569A>G (p.Val523=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 740481	NM_003659.4(AGPS):c.951C>T (p.Arg317=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740034	NM_003659.4(AGPS):c.1029T>C (p.Gly343=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731559	NM_003659.4(AGPS):c.921C>T (p.Phe307=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718494	NM_003659.4(AGPS):c.1536A>T (p.Ala512=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559044	NM_003659.4(AGPS):c.1704G>A (p.Thr568=)	AGPS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 497713	NM_003659.4(AGPS):c.1335C>T (p.Asp445=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 332610	NM_003659.4(AGPS):c.*5609G>A	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332609	NM_003659.4(AGPS):c.*5506T>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332608	NM_003659.4(AGPS):c.*5465C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332607	NM_003659.4(AGPS):c.*5453C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332606	NM_003659.4(AGPS):c.*5159T>C	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332605	NM_003659.4(AGPS):c.*5155C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332604	NM_003659.4(AGPS):c.*5124C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GLikely benign
Select item 332602	NM_003659.4(AGPS):c.*5026C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332601	NM_003659.4(AGPS):c.*5023C>A	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3 +1 more	GBenign/Likely benign
Select item 332600	NM_003659.4(AGPS):c.*4996C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332599	NM_003659.4(AGPS):c.*4974T>C	AGPS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 332598	NM_003659.4(AGPS):c.*4910C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332597	NM_003659.4(AGPS):c.*4885A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GUncertain significance
Select item 332596	NM_003659.4(AGPS):c.*4821C>T	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GBenign
Select item 332594	NM_003659.4(AGPS):c.*4618A>G	AGPS	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 3	GBenign
Select item 332592	NM_003659.4(AGPS):c.*4253C>A	AGPS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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