"GeneDx"[submitter] AND "HNRNPU"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
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 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 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 559858	NM_031844.3(HNRNPU):c.2425-2A>G	HNRNPU	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1287302	NM_031844.3(HNRNPU):c.2424+16T>C	HNRNPU	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1285686	NM_031844.3(HNRNPU):c.2352+14A>T	HNRNPU	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 451925	NM_031844.3(HNRNPU):c.2319_2320del (p.Gly774fs)	HNRNPU (G755fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
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 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 414100	NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54 +2 more	GBenign/Likely benign
Select item 414105	NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54 +2 more	GBenign/Likely benign
Select item 1219744	NM_031844.3(HNRNPU):c.2168-1G>T	HNRNPU	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1201879	NM_031844.3(HNRNPU):c.2168-12C>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54 +1 more	GLikely benign
Select item 1278129	NM_031844.3(HNRNPU):c.2167+39C>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 532563	NM_031844.2(HNRNPU):c.2166_2167+1delAGG	HNRNPU	Microsatellite	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1193701	NM_031844.3(HNRNPU):c.2119A>G (p.Arg707Gly)	HNRNPU (R688G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550006	NM_031844.3(HNRNPU):c.2053A>G (p.Thr685Ala)	HNRNPU (T666A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1190147	NM_031844.3(HNRNPU):c.1912+35T>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304173	NM_031844.3(HNRNPU):c.1895C>A (p.Ala632Glu)	HNRNPU (A613E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452169	NM_031844.3(HNRNPU):c.1865_1867del (p.Glu622del)	HNRNPU (E622del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2501416	NM_031844.3(HNRNPU):c.1856A>G (p.Lys619Arg)	HNRNPU (K600R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1214294	NM_031844.3(HNRNPU):c.1744-37T>C	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199998	NM_031844.3(HNRNPU):c.1744-47G>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 414097	NM_031844.3(HNRNPU):c.1743+10A>C	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54 +1 more	GBenign
Select item 414106	NM_031844.3(HNRNPU):c.1743+8G>T	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54 +1 more	GBenign/Likely benign
Select item 449036	NM_031844.3(HNRNPU):c.1681C>T (p.Gln561Ter)	HNRNPU (Q561* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 523805	NM_031844.3(HNRNPU):c.1669C>T (p.Gln557Ter)	HNRNPU (Q557* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3369244	NM_031844.3(HNRNPU):c.1616T>A (p.Val539Glu)	HNRNPU (V520E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293438	NM_031844.3(HNRNPU):c.1615-127A>G	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223968	NM_031844.3(HNRNPU):c.1615-209C>T	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218113	NM_031844.3(HNRNPU):c.1615-288_1615-285del	HNRNPU	Deletion (intron variant)	not provided	GLikely benign
Select item 1223828	NM_031844.3(HNRNPU):c.1614+337A>G	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312856	NM_031844.3(HNRNPU):c.1544C>T (p.Thr515Ile)	HNRNPU (T496I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424511	NM_031844.3(HNRNPU):c.1518del (p.Gly507fs)	HNRNPU (G488fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1293439	NM_031844.3(HNRNPU):c.1495-113G>C	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211377	NM_031844.3(HNRNPU):c.1495-132C>T	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261969	NM_031844.3(HNRNPU):c.1494+21del	HNRNPU	Deletion (intron variant)	not provided +1 more	GBenign
Select item 406729	NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala)	HNRNPU (G487A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1054234	NM_031844.3(HNRNPU):c.1451G>A (p.Arg484Gln)	HNRNPU (R465Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GUncertain significance
Select item 523871	NM_031844.3(HNRNPU):c.1450C>T (p.Arg484Ter)	HNRNPU (R484* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 532551	NM_031844.3(HNRNPU):c.1439C>T (p.Pro480Leu)	HNRNPU (P480L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446404	NM_031844.3(HNRNPU):c.1434C>T (p.Asn478=)	HNRNPU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328588	NM_031844.3(HNRNPU):c.1411G>A (p.Glu471Lys)	HNRNPU (E452K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446644	NM_031844.3(HNRNPU):c.1387G>C (p.Glu463Gln)	HNRNPU (E444Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625955	NM_031844.3(HNRNPU):c.1368A>C (p.Glu456Asp)	HNRNPU (E456D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GUncertain significance
Select item 3370616	NM_031844.3(HNRNPU):c.1340A>G (p.His447Arg)	HNRNPU (H428R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588492	NM_031844.3(HNRNPU):c.1251A>G (p.Val417=)	HNRNPU	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1234453	NM_031844.3(HNRNPU):c.1231-200T>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214972	NM_031844.3(HNRNPU):c.1230+125del	HNRNPU	Deletion (intron variant)	not provided	GLikely benign
Select item 1201516	NM_031844.3(HNRNPU):c.1230+47T>C	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489084	NM_031844.3(HNRNPU):c.1230+5G>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 414103	NM_031844.3(HNRNPU):c.1215G>A (p.Val405=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54 +2 more	GBenign/Likely benign
Select item 737792	NM_031844.3(HNRNPU):c.1208A>C (p.Asn403Thr)	HNRNPU (N403T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GBenign/Likely benign
Select item 384510	NM_031844.3(HNRNPU):c.1167C>T (p.Cys389=)	HNRNPU	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3366030	NM_031844.3(HNRNPU):c.1145C>G (p.Ser382Cys)	HNRNPU (S363C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213360	NM_031844.3(HNRNPU):c.1120GAA[2] (p.Glu376del)	HNRNPU (E357del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 423944	NM_031844.3(HNRNPU):c.1118-7_1118-3del	HNRNPU	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1257591	NM_031844.3(HNRNPU):c.1118-30C>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280680	NM_031844.3(HNRNPU):c.1117+153G>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291554	NM_031844.3(HNRNPU):c.1117+24T>G	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663561	NM_031844.3(HNRNPU):c.1061T>C (p.Ile354Thr)	HNRNPU (I335T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723668	NM_031844.3(HNRNPU):c.1029G>C (p.Lys343Asn)	HNRNPU (K324N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313450	NM_031844.3(HNRNPU):c.1018-13A>G	HNRNPU	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1273404	NM_031844.3(HNRNPU):c.1017+326C>T	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261111	NM_031844.3(HNRNPU):c.1017+272G>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194207	NM_031844.3(HNRNPU):c.1017+137TC[2]	HNRNPU	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1201049	NM_031844.3(HNRNPU):c.1017+117A>G	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178143	NM_031844.3(HNRNPU):c.1017+50T>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1800666	NM_031844.3(HNRNPU):c.994G>A (p.Gly332Ser)	HNRNPU (G313S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697052	NM_031844.3(HNRNPU):c.878-9T>C	HNRNPU	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1217153	NM_031844.3(HNRNPU):c.878-69G>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204493	NM_031844.3(HNRNPU):c.878-94G>C	HNRNPU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245570	NM_031844.3(HNRNPU):c.877+71T>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259202	NM_031844.3(HNRNPU):c.877+70G>A	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273824	NM_031844.3(HNRNPU):c.877+47T>G	HNRNPU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 406727	NM_031844.3(HNRNPU):c.875C>T (p.Thr292Ile)	HNRNPU (T292I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54 +1 more	GLikely benign
Select item 3343357	NM_031844.3(HNRNPU):c.871G>A (p.Asp291Asn)	HNRNPU (D272N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372843	NM_031844.3(HNRNPU):c.831AGA[2] (p.Glu279del)	HNRNPU (E279del +1 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 54 +1 more	GUncertain significance
Select item 1706354	NM_031844.3(HNRNPU):c.817C>T (p.Gln273Ter)	HNRNPU (Q254* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1247670	NM_031844.3(HNRNPU):c.803+11C>T	HNRNPU	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3369513	NM_031844.3(HNRNPU):c.767G>A (p.Gly256Glu)	HNRNPU (G237E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452072	NM_031844.3(HNRNPU):c.743_749del (p.Arg248fs)	HNRNPU (R248fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1204950	NM_031844.3(HNRNPU):c.692-317C>T	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206812	NM_031844.3(HNRNPU):c.692-345G>A	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270416	NM_031844.3(HNRNPU):c.691+196GT[14]	HNRNPU, LOC129932913	Microsatellite (intron variant)	not provided	GBenign
Select item 1223681	NM_031844.3(HNRNPU):c.691+196GT[15]	HNRNPU, LOC129932913	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1293436	NM_031844.3(HNRNPU):c.691+196GT[12]	HNRNPU, LOC129932913	Microsatellite (intron variant)	not provided	GBenign
Select item 1222305	NM_031844.3(HNRNPU):c.691+196GT[11]	HNRNPU, LOC129932913	Microsatellite (intron variant)	not provided	GBenign
Select item 1288865	NM_031844.3(HNRNPU):c.691+199T>C	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293504	NM_031844.3(HNRNPU):c.691+197T>C	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289922	NM_031844.3(HNRNPU):c.691+196_691+197insGCGT	HNRNPU, LOC129932913	Insertion (intron variant)	not provided	GBenign
Select item 1267623	NM_031844.3(HNRNPU):c.691+187CG[6]	HNRNPU, LOC129932913	Microsatellite (intron variant)	not provided	GBenign

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