MIPEP[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433750	NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)	MIPEP (E713K)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 2055689	NM_005932.4(MIPEP):c.2115C>G (p.Phe705Leu)	MIPEP (F705L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3294931	NM_005932.4(MIPEP):c.2102T>C (p.Leu701Ser)	MIPEP (L701S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1420118	NM_005932.4(MIPEP):c.2092G>A (p.Val698Ile)	MIPEP (V698I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 766134	NM_005932.4(MIPEP):c.2088C>T (p.Ala696=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3294928	NM_005932.4(MIPEP):c.2080G>A (p.Val694Ile)	MIPEP (V694I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 392943	NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp)	MIPEP (G682D)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +2 more	GUncertain significance
Select item 1941546	NM_005932.4(MIPEP):c.2044+15_2044+25del	MIPEP	Deletion (intron variant)	not provided	GLikely benign
Select item 3126691	NM_005932.4(MIPEP):c.1991G>A (p.Arg664His)	MIPEP (R664H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710180	NM_005932.4(MIPEP):c.1985G>A (p.Arg662His)	MIPEP (R662H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 813660	NM_005932.4(MIPEP):c.1984C>T (p.Arg662Cys)	MIPEP (R662C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 770419	NM_005932.4(MIPEP):c.1977C>T (p.Ala659=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3126690	NM_005932.4(MIPEP):c.1975G>T (p.Ala659Ser)	MIPEP (A659S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1259605	NM_005932.4(MIPEP):c.1970+20A>C	MIPEP	Single nucleotide variant (intron variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GBenign
Select item 2025408	NM_005932.4(MIPEP):c.1970+8G>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 840481	NM_005932.4(MIPEP):c.1970+2T>A	MIPEP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2320872	NM_005932.4(MIPEP):c.1958A>T (p.Asp653Val)	MIPEP (D653V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239463	NM_005932.4(MIPEP):c.1930A>G (p.Met644Val)	MIPEP (M644V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757963	NM_005932.4(MIPEP):c.1924G>A (p.Ala642Thr)	MIPEP (A642T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3054196	NM_005932.4(MIPEP):c.1923C>G (p.Val641=)	MIPEP	Single nucleotide variant (synonymous variant)	MIPEP-related disorder	GLikely benign
Select item 2138400	NM_005932.4(MIPEP):c.1881G>A (p.Gly627=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2180652	NM_005932.4(MIPEP):c.1880G>A (p.Gly627Glu)	MIPEP (G627E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2912137	NM_005932.4(MIPEP):c.1862G>A (p.Arg621Gln)	MIPEP (R621Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234957	NM_005932.4(MIPEP):c.1854G>A (p.Trp618Ter)	MIPEP (W618*)	Single nucleotide variant (nonsense)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 2504023	NM_005932.4(MIPEP):c.1848+2T>G	MIPEP	Single nucleotide variant (splice donor variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GLikely pathogenic
Select item 3058795	NM_005932.4(MIPEP):c.1833A>G (p.Pro611=)	MIPEP	Single nucleotide variant (synonymous variant)	MIPEP-related disorder	GLikely benign
Select item 2183775	NM_005932.4(MIPEP):c.1826del (p.Gly609fs)	MIPEP (G609fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2357120	NM_005932.4(MIPEP):c.1823A>G (p.Tyr608Cys)	MIPEP (Y608C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784267	NM_005932.4(MIPEP):c.1804G>A (p.Glu602Lys)	MIPEP (E602K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 208631	NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)	MIPEP (E602*)	Single nucleotide variant (nonsense)	Cardiomyopathy +2 more	GPathogenic
Select item 3015342	NM_005932.4(MIPEP):c.1788C>T (p.Thr596=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787407	NM_005932.4(MIPEP):c.1774C>T (p.Leu592=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1978825	NM_005932.4(MIPEP):c.1767G>A (p.Lys589=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208628	NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)	MIPEP (L582R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 2173946	NM_005932.4(MIPEP):c.1735T>C (p.Tyr579His)	MIPEP (Y579H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 781832	NM_005932.4(MIPEP):c.1728+7A>G	MIPEP	Single nucleotide variant (intron variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GBenign/Likely benign
Select item 2223623	NM_005932.4(MIPEP):c.1728+5G>T	MIPEP	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 930152	NM_005932.4(MIPEP):c.1727A>C (p.Gln576Pro)	MIPEP (Q576P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564300	NM_005932.4(MIPEP):c.1718T>C (p.Met573Thr)	MIPEP (M573T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126687	NM_005932.4(MIPEP):c.1709C>T (p.Ala570Val)	MIPEP (A570V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030039	NM_005932.4(MIPEP):c.1708G>A (p.Ala570Thr)	MIPEP (A570T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1442689	NM_005932.4(MIPEP):c.1700T>G (p.Val567Gly)	MIPEP (V567G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3126686	NM_005932.4(MIPEP):c.1693A>G (p.Lys565Glu)	MIPEP (K565E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2973831	NM_005932.4(MIPEP):c.1689A>G (p.Glu563=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 587593	NM_005932.4(MIPEP):c.1679G>A (p.Arg560His)	MIPEP (R560H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 634482	NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr)	MIPEP (M557T)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
Select item 787408	NM_005932.4(MIPEP):c.1654-3A>G	MIPEP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1245447	NM_005932.4(MIPEP):c.1654-66G>A	MIPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274517	NM_005932.4(MIPEP):c.1653+101C>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2617826	NM_005932.4(MIPEP):c.1639T>C (p.Tyr547His)	MIPEP (Y547H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1653420	NM_005932.4(MIPEP):c.1629T>C (p.Phe543=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3294927	NM_005932.4(MIPEP):c.1613G>A (p.Arg538Gln)	MIPEP (R538Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1545368	NM_005932.4(MIPEP):c.1612C>A (p.Arg538=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737402	NM_005932.4(MIPEP):c.1572G>A (p.Glu524=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2068132	NM_005932.4(MIPEP):c.1549A>C (p.Arg517=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762526	NM_005932.4(MIPEP):c.1545G>T (p.Gly515=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771463	NM_005932.4(MIPEP):c.1544-7G>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739826	NM_005932.4(MIPEP):c.1544-7G>C	MIPEP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1277553	NM_005932.4(MIPEP):c.1544-22dup	MIPEP	Duplication (intron variant)	not provided	GBenign
Select item 771464	NM_005932.4(MIPEP):c.1544-10C>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181798	NM_005932.4(MIPEP):c.1544-11del	MIPEP	Deletion (intron variant)	not provided	GBenign
Select item 3020335	NM_005932.4(MIPEP):c.1543+11A>G	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2513406	NM_005932.4(MIPEP):c.1537G>A (p.Val513Ile)	MIPEP (V513I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208633	NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)	MIPEP (H512D)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1033048	NM_005932.4(MIPEP):c.1526G>A (p.Arg509His)	MIPEP (R509H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2126061	NM_005932.4(MIPEP):c.1522A>C (p.Thr508Pro)	MIPEP (T508P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3126685	NM_005932.4(MIPEP):c.1519C>T (p.Arg507Cys)	MIPEP (R507C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072112	NM_005932.4(MIPEP):c.1510A>G (p.Met504Val)	MIPEP (M504V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480190	NM_005932.4(MIPEP):c.1502T>C (p.Met501Thr)	MIPEP (M501T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3294929	NM_005932.4(MIPEP):c.1490T>C (p.Met497Thr)	MIPEP (M497T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321170	NM_005932.4(MIPEP):c.1462A>G (p.Ser488Gly)	MIPEP (S488G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 769842	NM_005932.4(MIPEP):c.1462= (p.Ser488=)	MIPEP	Variation (no sequence alteration)	not provided	GBenign
Select item 2213498	NM_005932.4(MIPEP):c.1427G>A (p.Arg476His)	MIPEP (R476H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2854282	NM_005932.4(MIPEP):c.1392A>G (p.Gln464=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022458	NM_005932.4(MIPEP):c.1362A>G (p.Gly454=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2358284	NM_005932.4(MIPEP):c.1358G>A (p.Arg453His)	MIPEP (R453H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2955691	NM_005932.4(MIPEP):c.1357C>T (p.Arg453Cys)	MIPEP (R453C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033047	NM_005932.4(MIPEP):c.1354A>C (p.Ile452Leu)	MIPEP (I452L)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
Select item 723527	NM_005932.4(MIPEP):c.1311T>C (p.Phe437=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2072268	NM_005932.4(MIPEP):c.1261-5del	MIPEP	Deletion (intron variant)	not provided	GBenign
Select item 1234800	NM_005932.4(MIPEP):c.1260+31A>G	MIPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2723315	NM_005932.4(MIPEP):c.1260+7T>G	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712128	NM_005932.4(MIPEP):c.1260+6C>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210219	NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro)	MIPEP (L420P)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 2601217	NM_005932.4(MIPEP):c.1249G>A (p.Val417Ile)	MIPEP (V417I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460677	NM_005932.4(MIPEP):c.1240A>G (p.Ser414Gly)	MIPEP (S414G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2613437	NM_005932.4(MIPEP):c.1213G>A (p.Glu405Lys)	MIPEP (E405K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2980843	NM_005932.4(MIPEP):c.1188A>G (p.Arg396=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 870675	NM_005932.4(MIPEP):c.1137_1138insC (p.Phe380fs)	MIPEP (F380fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1431485	NM_005932.4(MIPEP):c.1136C>T (p.Pro379Leu)	MIPEP (P379L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1624740	NM_005932.4(MIPEP):c.1122C>T (p.Pro374=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1233972	NM_005932.4(MIPEP):c.1107-107C>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1948721	NM_005932.4(MIPEP):c.1106+20C>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2071273	NM_005932.4(MIPEP):c.1096C>T (p.Arg366Cys)	MIPEP (R366C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030038	NM_005932.4(MIPEP):c.1090G>A (p.Val364Met)	MIPEP (V364M)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 1030037	NM_005932.4(MIPEP):c.1088G>T (p.Gly363Val)	MIPEP (G363V)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 3126684	NM_005932.4(MIPEP):c.1085G>A (p.Ser362Asn)	MIPEP (S362N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2973805	NM_005932.4(MIPEP):c.1076dup (p.Tyr360fs)	MIPEP (Y360fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2045524	NM_005932.4(MIPEP):c.1064C>T (p.Pro355Leu)	MIPEP (P355L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3294930	NM_005932.4(MIPEP):c.1061T>C (p.Met354Thr)	MIPEP (M354T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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