ClinVar for MedGen (Select 1253) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 253

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233396	NM_001386140.1(MTTP):c.1834G>C (p.Gly612Arg)	MTTP (G529R +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 2690280	NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)	MTTP (Q161* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GPathogenic
Select item 2502225	NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)	MTTP (D297V +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 2445867	NM_001386140.1(MTTP):c.2342+1G>A	MTTP	Single nucleotide variant (splice donor variant)	Abetalipoproteinaemia	GPathogenic
Select item 2431640	NC_000004.12:g.(99601399_99613000)del	MTTP	Deletion	Abetalipoproteinaemia	GPathogenic
Select item 2430126	NM_001386140.1(MTTP):c.75dup (p.Leu26fs)	MTTP (L26fs)	Duplication (frameshift variant +1 more)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1803921	NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)	MTTP (S805N +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1803920	NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)	MTTP (L588M +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1726902	NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)	MTTP (L394fs +1 more)	Insertion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1726882	NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)	MTTP (G572fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1726729	NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)	MTTP (F684fs +1 more)	Indel (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1726580	NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)	MTTP (S286* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1726513	NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)	MTTP (S339fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1726461	NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)	MTTP (L660* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726425	NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)	MTTP (T162fs +1 more)	Indel (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1726379	NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)	MTTP (G187fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1726271	NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)	MTTP (G163fs +1 more)	Indel (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1726254	NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)	MTTP (G112* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1725668	NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)	MTTP (G187* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1725645	NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)	MTTP (N236fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1725587	NM_001386140.1(MTTP):c.1646del (p.Asn549fs)	MTTP (N466fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1725352	NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)	MTTP	Indel (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1725302	NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)	MTTP (N442fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1725205	NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)	MTTP (T622fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1725111	NM_001386140.1(MTTP):c.1168del (p.Gln390fs)	MTTP (Q307fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1725048	NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)	MTTP (Q617fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1725004	NM_001386140.1(MTTP):c.275_276del (p.Val92fs)	MTTP (V92fs +1 more)	Microsatellite (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724911	NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)	MTTP (Y38*)	Single nucleotide variant (nonsense +1 more)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724822	NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)	MTTP (F8fs)	Insertion (frameshift variant +1 more)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724637	NM_001386140.1(MTTP):c.1940del (p.Asn647fs)	MTTP (N564fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724636	NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)	MTTP (N602fs +1 more)	Indel (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724604	NM_001386140.1(MTTP):c.546del (p.Asp183fs)	MTTP (D100fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724542	NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)	MTTP (R562* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724469	NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)	MTTP (F568fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724329	NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)	MTTP (E503* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724277	NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)	MTTP (R121fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724151	NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)	MTTP	Insertion (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724073	NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)	MTTP (V645fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1724038	NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)	MTTP (E150fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 1687508	NM_001386140.1(MTTP):c.640del (p.Ala214fs)	MTTP (A131fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia	GPathogenic
Select item 1385779	NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs)	MTTP (I464fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1381641	NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val)	MTTP (E462V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1380622	NM_001386140.1(MTTP):c.863C>A (p.Pro288His)	MTTP (P205H +1 more)	Single nucleotide variant (missense variant)	Metabolic syndrome X +2 more	GUncertain significance
Select item 1370630	NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu)	MTTP (A381E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1358938	NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile)	MTTP (T434I +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +2 more	GUncertain significance
Select item 1323301	NM_001386140.1(MTTP):c.501+1G>A	MTTP	Single nucleotide variant (splice donor variant)	Abetalipoproteinaemia	GPathogenic
Select item 1321372	NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del	MTTP	Deletion	Abetalipoproteinaemia	GLikely pathogenic
Select item 1252062	NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp)	MTTP (N791D +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1209607	NM_001386140.1(MTTP):c.*38G>A	MTTP	Single nucleotide variant (3 prime UTR variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1209606	NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser)	MTTP (G151S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1209605	NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile)	MTTP (N468I +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1209604	NM_001386140.1(MTTP):c.64C>T (p.His22Tyr)	MTTP (H22Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1209583	NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg)	MTTP (G809R +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1209582	NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala)	MTTP (D710A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1122701	NM_001386140.1(MTTP):c.1407C>T (p.Asp469=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114275	NM_001386140.1(MTTP):c.501+8C>T	MTTP	Single nucleotide variant (intron variant)	Abetalipoproteinaemia +1 more	GConflicting classifications of pathogenicity
Select item 1114250	NM_001386140.1(MTTP):c.1233C>T (p.Leu411=)	MTTP	Single nucleotide variant (synonymous variant)	Abetalipoproteinaemia +1 more	GLikely benign
Select item 1075423	NM_001386140.1(MTTP):c.141del (p.Gly49fs)	MTTP (G49fs)	Deletion (frameshift variant +1 more)	Metabolic syndrome X +2 more	GPathogenic/Likely pathogenic
Select item 1072850	NM_001386140.1(MTTP):c.419dup (p.Asn140fs)	MTTP (N140fs +1 more)	Duplication (frameshift variant)	MTTP-related disorder +2 more	GPathogenic
Select item 1068931	NM_001386140.1(MTTP):c.1949del (p.Ile650fs)	MTTP (I567fs +1 more)	Deletion (frameshift variant)	Abetalipoproteinaemia +1 more	GPathogenic/Likely pathogenic
Select item 1064236	NM_001386140.1(MTTP):c.543T>G (p.His181Gln)	MTTP (H181Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056762	NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg)	MTTP (Q586R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054307	NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser)	MTTP (P431S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051028	NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile)	MTTP (T700I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039958	NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr)	MTTP (M346T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038651	NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser)	MTTP (N359S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028159	NM_001386140.1(MTTP):c.502-2A>G	MTTP	Single nucleotide variant (splice acceptor variant)	Abetalipoproteinaemia +1 more	GLikely pathogenic
Select item 1028158	NM_001386140.1(MTTP):c.393+5A>G	MTTP	Single nucleotide variant (intron variant)	Abetalipoproteinaemia	GUncertain significance
Select item 1028157	NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter)	MTTP (E777* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GPathogenic
Select item 1023877	NM_001386140.1(MTTP):c.558C>G (p.Ile186Met)	MTTP (I103M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022080	NM_001386140.1(MTTP):c.854C>T (p.Thr285Met)	MTTP (T202M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020417	NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val)	MTTP (I463V +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia +2 more	GUncertain significance
Select item 1019999	NM_001386140.1(MTTP):c.332T>C (p.Met111Thr)	MTTP (M111T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003469	NM_001386140.1(MTTP):c.2315G>A (p.Arg772His)	MTTP (R689H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002566	NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu)	MTTP (F568L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989818	NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn)	MTTP (T806N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989817	NM_001386140.1(MTTP):c.2550C>G (p.Gly850=)	MTTP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989816	NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp)	MTTP (G639D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989815	NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys)	MTTP (R543C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989814	NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr)	MTTP (A494T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 989813	NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro)	MTTP (A144P +1 more)	Single nucleotide variant (missense variant)	Abetalipoproteinaemia	GUncertain significance
Select item 989812	NM_001386140.1(MTTP):c.34A>G (p.Ile12Val)	MTTP (I12V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 984260	NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter)	MTTP (K112* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 984259	NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter)	MTTP (E134* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 984258	NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter)	MTTP (Q120* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983777	NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter)	MTTP (Q671* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983776	NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter)	MTTP (G626* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983775	NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter)	MTTP (L591* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983774	NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter)	MTTP (Y570* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983773	NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter)	MTTP (K490* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983772	NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter)	MTTP (Q486* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983699	NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter)	MTTP (L373* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983698	NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter)	MTTP (E360* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983697	NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter)	MTTP (Q358* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983696	NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter)	MTTP (E290* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983695	NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter)	MTTP (Q284* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983694	NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter)	MTTP (L273* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983693	NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter)	MTTP (C218* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 983692	NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter)	MTTP (K176* +1 more)	Single nucleotide variant (nonsense)	Abetalipoproteinaemia	GLikely pathogenic
Select item 972557	NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)	MTTP (L44V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 3