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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 393464	NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter)	HNRNPU (Y805* +1 more)	Indel (nonsense)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 423250	NM_031844.3(HNRNPU):c.2466A>T (p.Gln822His)	HNRNPU (Q822H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GUncertain significance
Select item 972715	NM_031844.3(HNRNPU):c.2464C>T (p.Gln822Ter)	HNRNPU (Q803* +1 more)	Single nucleotide variant (nonsense)	Myoclonic absence seizure +1 more	GBenign/Likely benign
Select item 2825106	NM_031844.3(HNRNPU):c.2460T>C (p.Tyr820=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 3106442	NM_031844.3(HNRNPU):c.2430C>G (p.Phe810Leu)	HNRNPU (F810L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 998090	NM_031844.3(HNRNPU):c.2425-2A>T	HNRNPU	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 559858	NM_031844.3(HNRNPU):c.2425-2A>G	HNRNPU	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1809599	NM_031844.3(HNRNPU):c.2425-3C>A	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1138610	NM_031844.3(HNRNPU):c.2425-7C>T	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1638347	NM_031844.3(HNRNPU):c.2425-15_2425-14del	HNRNPU	Deletion (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2002913	NM_031844.3(HNRNPU):c.2424+16T>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1287302	NM_031844.3(HNRNPU):c.2424+16T>C	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54 +1 more	GBenign
Select item 2772569	NM_031844.3(HNRNPU):c.2424+11T>A	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1563712	NM_031844.3(HNRNPU):c.2421G>C (p.Gln807His)	HNRNPU (Q788H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 446395	NM_031844.3(HNRNPU):c.2408A>G (p.Asn803Ser)	HNRNPU (N803S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2767630	NM_031844.3(HNRNPU):c.2404T>C (p.Tyr802His)	HNRNPU (Y783H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 1151230	NM_031844.3(HNRNPU):c.2403C>T (p.Gly801=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2062299	NM_031844.3(HNRNPU):c.2394A>G (p.Gln798=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1963260	NM_031844.3(HNRNPU):c.2391T>C (p.Asn797=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1511487	NM_031844.3(HNRNPU):c.2390dup (p.Asn797fs)	HNRNPU (N797fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 3338046	NM_031844.3(HNRNPU):c.2389_2390del (p.Asn797fs)	HNRNPU (N778fs +1 more)	Deletion (frameshift variant)	Seizure	GPathogenic
Select item 2165141	NM_031844.3(HNRNPU):c.2390A>G (p.Asn797Ser)	HNRNPU (N797S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1078869	NM_031844.3(HNRNPU):c.2375A>G (p.Asn792Ser)	HNRNPU (N773S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2074261	NM_031844.3(HNRNPU):c.2374A>C (p.Asn792His)	HNRNPU (N773H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1790324	NM_031844.3(HNRNPU):c.2373C>T (p.Asn791=)	HNRNPU	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2640223	NM_031844.3(HNRNPU):c.2366G>A (p.Arg789Gln)	HNRNPU (R770Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575984	NM_031844.3(HNRNPU):c.2365C>T (p.Arg789Ter)	HNRNPU (R770* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2850779	NM_031844.3(HNRNPU):c.2364A>T (p.Gly788=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1544772	NM_031844.3(HNRNPU):c.2359A>C (p.Arg787=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1690404	NM_031844.3(HNRNPU):c.2353-7T>C	HNRNPU	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2190771	NM_031844.3(HNRNPU):c.2353-16_2353-15delinsAG	HNRNPU	Indel (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2116499	NM_031844.3(HNRNPU):c.2353-17G>A	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1610298	NM_031844.3(HNRNPU):c.2353-22_2353-17del	HNRNPU	Deletion (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1565842	NM_031844.3(HNRNPU):c.2353-22AG[2]	HNRNPU	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1178522	NM_031844.3(HNRNPU):c.2353-114_2353-111del	HNRNPU	Microsatellite (intron variant)	not provided	GBenign
Select item 1264146	NM_031844.3(HNRNPU):c.2352+102G>T	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2786366	NM_031844.3(HNRNPU):c.2352+19T>C	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2095302	NM_031844.3(HNRNPU):c.2352+17C>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1285686	NM_031844.3(HNRNPU):c.2352+14A>T	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54 +1 more	GBenign
Select item 1595114	NM_031844.3(HNRNPU):c.2352+12A>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2065666	NM_031844.3(HNRNPU):c.2352+10C>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1331166	NM_031844.3(HNRNPU):c.2351A>C (p.Gln784Pro)	HNRNPU (Q765P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 833746	NM_031844.3(HNRNPU):c.2350C>G (p.Gln784Glu)	HNRNPU (Q765E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2006251	NM_031844.3(HNRNPU):c.2347A>C (p.Asn783His)	HNRNPU (N783H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 1473456	NM_031844.3(HNRNPU):c.2347A>T (p.Asn783Tyr)	HNRNPU (N764Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2015041	NM_031844.3(HNRNPU):c.2342A>C (p.Asn781Thr)	HNRNPU (N762T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 658400	NM_031844.3(HNRNPU):c.2341A>G (p.Asn781Asp)	HNRNPU (N762D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GUncertain significance
Select item 1400088	NM_031844.3(HNRNPU):c.2322_2339del (p.Gly775_Gly780del)	HNRNPU	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 1139278	NM_031844.3(HNRNPU):c.2334C>T (p.Asn778=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2177753	NM_031844.3(HNRNPU):c.2333A>G (p.Asn778Ser)	HNRNPU (N759S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2916982	NM_031844.3(HNRNPU):c.2331C>T (p.Pro777=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2190804	NM_031844.3(HNRNPU):c.2328G>T (p.Met776Ile)	HNRNPU (M757I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2992094	NM_031844.3(HNRNPU):c.2320G>A (p.Gly774Ser)	HNRNPU (G755S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 451925	NM_031844.3(HNRNPU):c.2319_2320del (p.Gly774fs)	HNRNPU (G755fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2725768	NM_031844.3(HNRNPU):c.2315A>G (p.Asn772Ser)	HNRNPU (N753S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GBenign
Select item 1141200	NM_031844.3(HNRNPU):c.2313C>T (p.Tyr771=)	HNRNPU	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 203383	NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs)	HNRNPU (G769fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic/Likely pathogenic
Select item 241620	NM_031844.3(HNRNPU):c.2299_2302del (p.Asn767fs)	HNRNPU (N748fs +1 more)	Deletion (frameshift variant)	heterogeneous nuclear ribonucleoprotein G, human +1 more	GConflicting classifications of pathogenicity
Select item 2672190	NM_031844.3(HNRNPU):c.2295_2298del (p.Ser764_Tyr765insTer)	HNRNPU	Deletion (nonsense)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 1502459	NM_031844.3(HNRNPU):c.2296T>G (p.Ser766Ala)	HNRNPU (S747A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GBenign
Select item 2858335	NM_031844.3(HNRNPU):c.2295C>T (p.Tyr765=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1073511	NM_031844.3(HNRNPU):c.2291_2294dup (p.Tyr765Ter)	HNRNPU (Y746* +1 more)	Duplication (nonsense)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 981344	NM_031844.3(HNRNPU):c.2288dup (p.Gly763_Ser764insTer)	HNRNPU	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 654384	NM_031844.3(HNRNPU):c.2285G>A (p.Arg762His)	HNRNPU (R743H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GConflicting classifications of pathogenicity
Select item 1425419	NM_031844.3(HNRNPU):c.2284C>T (p.Arg762Cys)	HNRNPU (R743C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 3013244	NM_031844.3(HNRNPU):c.2283C>T (p.Gly761=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1580592	NM_031844.3(HNRNPU):c.2274T>G (p.Val758=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2821112	NM_031844.3(HNRNPU):c.2272G>C (p.Val758Leu)	HNRNPU (V758L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 267739	NM_031844.3(HNRNPU):c.2270_2271del (p.Pro757fs)	HNRNPU (P738fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1207551	NM_031844.3(HNRNPU):c.2269C>T (p.Pro757Ser)	HNRNPU (P738S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2022226	NM_031844.3(HNRNPU):c.2268C>T (p.Ala756=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 871334	NM_031844.3(HNRNPU):c.2266G>C (p.Ala756Pro)	HNRNPU (A756P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796769	NM_031844.3(HNRNPU):c.2264G>A (p.Arg755His)	HNRNPU (R736H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 568783	NM_031844.3(HNRNPU):c.2263C>T (p.Arg755Cys)	HNRNPU (R755C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1073238	NM_031844.3(HNRNPU):c.2256_2260del (p.Tyr753fs)	HNRNPU (Y734fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 1663562	NM_031844.3(HNRNPU):c.2256A>G (p.Pro752=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1472921	NM_031844.3(HNRNPU):c.2252A>G (p.Tyr751Cys)	HNRNPU (Y732C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 446397	NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser)	HNRNPU (G750S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GConflicting classifications of pathogenicity
Select item 414102	NM_031844.3(HNRNPU):c.2247C>T (p.Ile749=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1004760	NM_031844.3(HNRNPU):c.2232_2240del (p.Ser746_Gly748del)	HNRNPU	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 1351565	NM_031844.3(HNRNPU):c.2237G>T (p.Ser746Ile)	HNRNPU (S727I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GBenign
Select item 1999827	NM_031844.3(HNRNPU):c.2236A>G (p.Ser746Gly)	HNRNPU (S727G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 1046728	NM_031844.3(HNRNPU):c.2227G>A (p.Gly743Ser)	HNRNPU (G724S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GConflicting classifications of pathogenicity
Select item 770055	NM_031844.3(HNRNPU):c.2226C>T (p.Gly742=)	HNRNPU	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632829	NM_031844.3(HNRNPU):c.2220TGG[1] (p.Gly745del)	HNRNPU (G726del +1 more)	Microsatellite (inframe_deletion)	HNRNPU-related disorder +1 more	GUncertain significance
Select item 3106441	NM_031844.3(HNRNPU):c.2221G>A (p.Gly741Ser)	HNRNPU (G722S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787847	NM_031844.3(HNRNPU):c.2217_2218del (p.Gly740fs)	HNRNPU (G721fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3372249	NM_031844.3(HNRNPU):c.2213A>G (p.Gln738Arg)	HNRNPU (Q719R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434352	NM_031844.3(HNRNPU):c.2210dup (p.Gln738fs)	HNRNPU (Q738fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 2752192	NM_031844.3(HNRNPU):c.2210C>T (p.Pro737Leu)	HNRNPU (P737L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2131702	NM_031844.3(HNRNPU):c.2206A>G (p.Met736Val)	HNRNPU (M717V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 1660216	NM_031844.3(HNRNPU):c.2204A>G (p.Asn735Ser)	HNRNPU (N716S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GBenign
Select item 521513	NM_031844.3(HNRNPU):c.2199G>T (p.Arg733Ser)	HNRNPU (R733S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 414100	NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=)	HNRNPU	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3356747	NM_031844.3(HNRNPU):c.2185G>A (p.Gly729Arg)	HNRNPU (G710R +1 more)	Single nucleotide variant (missense variant)	HNRNPU-related disorder	GUncertain significance
Select item 2006252	NM_031844.3(HNRNPU):c.2184C>A (p.Gly728=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 699062	NM_031844.3(HNRNPU):c.2184C>T (p.Gly728=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2983227	NM_031844.3(HNRNPU):c.2181T>G (p.Arg727=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2229614	NM_031844.3(HNRNPU):c.2177A>G (p.Asn726Ser)	HNRNPU (N726S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2114337	NM_031844.3(HNRNPU):c.2175G>A (p.Gly725=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign

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