HNRNPU[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1076

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 147285	GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3	ADSS2, AKT3 +87 more	Copy number gain	See cases	GPathogenic
Select item 60153	GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1	ADSS2, AKT3 +87 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 149180	GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3	ADSS2, AKT3 +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579277	GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1	ADSS2, AKT3 +73 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60156	GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1	ADSS2, AKT3 +70 more	Copy number loss	See cases	GPathogenic
Select item 60157	GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1	ADSS2, AKT3 +73 more	Copy number loss	See cases	GPathogenic
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	LOC126806079, LOC126806080 +119 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 151741	GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3	ADSS2, AKT3 +65 more	Copy number gain	See cases	GUncertain significance
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60158	GRCh38/hg38 1q43-44(chr1:243225391-245289313)x1	ADSS2, AKT3 +66 more	Copy number loss	See cases	GPathogenic
Select item 57260	GRCh38/hg38 1q44(chr1:243677224-244923447)x1	ADSS2, AKT3 +44 more	Copy number loss	See cases	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 60188	GRCh38/hg38 1q44(chr1:244222222-245502219)x1	ADSS2, C1orf202 +47 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 60192	GRCh38/hg38 1q44(chr1:244692061-245647727)x1	C1orf202, COX20 +31 more	Copy number loss	See cases	GPathogenic
Select item 1282439	NM_031844.3(HNRNPU):c.*287dup	HNRNPU, SNORA100	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1214450	NM_031844.3(HNRNPU):c.286_287dup	HNRNPU, SNORA100	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1219555	NM_031844.3(HNRNPU):c.*287del	HNRNPU, SNORA100	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 584092	NC_000001.11:g.(?_244854430)_(244864327_?)del	HNRNPU, LOC129932913	Deletion	heterogeneous nuclear ribonucleoprotein G, human	GPathogenic
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

<< First< Prev

Page of 11