ClinVar for Gene (Select 4285) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063766	NM_005932.4(MIPEP):c.890G>T (p.Gly297Val)	MIPEP (G297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 3058795	NM_005932.4(MIPEP):c.1833A>G (p.Pro611=)	MIPEP	Single nucleotide variant (synonymous variant)	MIPEP-related condition	GLikely benign
Select item 3054196	NM_005932.4(MIPEP):c.1923C>G (p.Val641=)	MIPEP	Single nucleotide variant (synonymous variant)	MIPEP-related condition	GLikely benign
Select item 3043660	NM_005932.4(MIPEP):c.944-7G>A	MIPEP	Single nucleotide variant (intron variant)	MIPEP-related condition	GLikely benign
Select item 3020335	NM_005932.4(MIPEP):c.1543+11A>G	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015342	NM_005932.4(MIPEP):c.1788C>T (p.Thr596=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008240	NM_005932.4(MIPEP):c.195T>G (p.Leu65=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005719	NM_005932.4(MIPEP):c.603+11_603+12del	MIPEP	Deletion (intron variant)	not provided	GLikely benign
Select item 2998061	NM_005932.4(MIPEP):c.1047A>G (p.Gln349=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980843	NM_005932.4(MIPEP):c.1188A>G (p.Arg396=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973947	NM_005932.4(MIPEP):c.1012A>G (p.Met338Val)	MIPEP (M338V)	Single nucleotide variant (missense variant)	not provided	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 2973805	NM_005932.4(MIPEP):c.1076dup (p.Tyr360fs)	MIPEP (Y360fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2973053	NM_005932.4(MIPEP):c.539+15C>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2912137	NM_005932.4(MIPEP):c.1862G>A (p.Arg621Gln)	MIPEP (R621Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862922	NM_005932.4(MIPEP):c.167T>G (p.Leu56Trp)	MIPEP, PCOTH (L56W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2854282	NM_005932.4(MIPEP):c.1392A>G (p.Gln464=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776898	NM_005932.4(MIPEP):c.495A>G (p.Leu165=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769653	NM_005932.4(MIPEP):c.1007T>C (p.Phe336Ser)	MIPEP (F336S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762526	NM_005932.4(MIPEP):c.1545G>T (p.Gly515=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723315	NM_005932.4(MIPEP):c.1260+7T>G	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715262	NM_005932.4(MIPEP):c.15A>C (p.Gly5=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	MIPEP-related condition +1 more	GLikely benign
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 2613437	NM_005932.4(MIPEP):c.1213G>A (p.Glu405Lys)	MIPEP (E405K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2579965	NM_005932.4(MIPEP):c.18G>T (p.Arg6Ser)	MIPEP, PCOTH (R6S)	Single nucleotide variant (missense variant)	not provided	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 2545092	NM_005932.4(MIPEP):c.1057G>C (p.Val353Leu)	MIPEP (V353L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2537923	NM_005932.4(MIPEP):c.845T>C (p.Leu282Ser)	MIPEP (L282S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2467734	NM_005932.4(MIPEP):c.1003G>A (p.Asp335Asn)	MIPEP (D335N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462460	NM_005932.4(MIPEP):c.413C>T (p.Ala138Val)	MIPEP (A138V)	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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2426474	NC_000013.10:g.(?_24293859)_(26594123_?)del	AMER2, ATP12A +12 more	Deletion	not provided	GPathogenic
Select item 2425448	NC_000013.10:g.(?_23667335)_(24463459_?)dup	MIPEP, PCOTH +3 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2425447	NC_000013.10:g.(?_24293859)_(24463459_?)del	MIPEP, PCOTH	Deletion	not provided	GUncertain significance
Select item 2422612	NC_000013.10:g.(?_23898487)_(24463459_?)del	MIPEP, PCOTH +3 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 2421629	NM_005932.4(MIPEP):c.82G>A (p.Glu28Lys)	MIPEP, PCOTH (E28K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419519	NM_005932.4(MIPEP):c.312C>T (p.Thr104=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418156	NM_005932.4(MIPEP):c.138C>G (p.Ala46=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362426	NM_005932.4(MIPEP):c.527A>G (p.Asp176Gly)	MIPEP (D176G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2357120	NM_005932.4(MIPEP):c.1823A>G (p.Tyr608Cys)	MIPEP (Y608C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354478	NM_005932.4(MIPEP):c.914C>T (p.Ala305Val)	MIPEP (A305V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353394	NM_005932.4(MIPEP):c.695A>G (p.His232Arg)	MIPEP (H232R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338979	NM_005932.4(MIPEP):c.926C>A (p.Thr309Lys)	MIPEP (T309K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322222	NM_005932.4(MIPEP):c.309G>T (p.Gln103His)	MIPEP (Q103H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2301187	NM_005932.4(MIPEP):c.59G>A (p.Arg20His)	MIPEP, PCOTH (R20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297854	NM_005932.4(MIPEP):c.146_157del (p.Val49_Gln52del)	MIPEP, PCOTH	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2290899	NM_005932.4(MIPEP):c.307C>G (p.Gln103Glu)	MIPEP (Q103E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285260	NM_005932.4(MIPEP):c.899C>T (p.Thr300Met)	MIPEP (T300M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258699	NM_005932.4(MIPEP):c.1031T>A (p.Met344Lys)	MIPEP (M344K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258107	NM_005932.4(MIPEP):c.335C>T (p.Ser112Leu)	MIPEP (S112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248241	NM_005932.4(MIPEP):c.827C>T (p.Ala276Val)	MIPEP (A276V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236183	NM_005932.4(MIPEP):c.715C>T (p.Arg239Cys)	MIPEP (R239C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223623	NM_005932.4(MIPEP):c.1728+5G>T	MIPEP	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2222896	NM_005932.4(MIPEP):c.1053+1G>A	MIPEP	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
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 2183775	NM_005932.4(MIPEP):c.1826del (p.Gly609fs)	MIPEP (G609fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180652	NM_005932.4(MIPEP):c.1880G>A (p.Gly627Glu)	MIPEP (G627E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173946	NM_005932.4(MIPEP):c.1735T>C (p.Tyr579His)	MIPEP (Y579H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2170188	NM_005932.4(MIPEP):c.684G>A (p.Lys228=)	MIPEP	Single nucleotide variant (synonymous variant)	MIPEP-related condition +1 more	GLikely benign
Select item 2170187	NM_005932.4(MIPEP):c.834A>G (p.Gln278=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2160546	NM_005932.4(MIPEP):c.299C>A (p.Pro100His)	MIPEP (P100H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155241	NM_005932.4(MIPEP):c.1023G>A (p.Gly341=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150437	NM_005932.4(MIPEP):c.726T>G (p.Phe242Leu)	MIPEP (F242L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2130999	NM_005932.4(MIPEP):c.660_661insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCGCGCCCGGCCTTGAGTAGTACATTTCTT (p.Met221delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)	MIPEP	Insertion (nonsense)	not provided	GPathogenic
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 2105852	NM_005932.4(MIPEP):c.943+15C>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072268	NM_005932.4(MIPEP):c.1261-5del	MIPEP	Deletion (intron variant)	not provided	GBenign
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 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 2070086	NM_005932.4(MIPEP):c.943+10T>G	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068132	NM_005932.4(MIPEP):c.1549A>C (p.Arg517=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064419	NM_005932.4(MIPEP):c.824A>G (p.Asn275Ser)	MIPEP (N275S)	Single nucleotide variant (missense variant)	not provided	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 2051284	NM_005932.4(MIPEP):c.466G>A (p.Val156Met)	MIPEP (V156M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2038159	NM_005932.4(MIPEP):c.270G>C (p.Leu90Phe)	MIPEP (L90F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025408	NM_005932.4(MIPEP):c.1970+8G>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2022458	NM_005932.4(MIPEP):c.1362A>G (p.Gly454=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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