Related gene-specific medical variations for Gene (Select 3192) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247850	NC_000001.10:g.(?_245018389)_(245019742_?)del	HNRNPU	Deletion	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 3065848	NM_031844.3(HNRNPU):c.2008A>G (p.Lys670Glu)	HNRNPU (K651E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 3062065	NM_031844.3(HNRNPU):c.584del (p.Ala195fs)	HNRNPU (A195fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 2919056	NM_031844.3(HNRNPU):c.691+14T>G	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2793124	NM_031844.3(HNRNPU):c.691+11C>T	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2672190	NM_031844.3(HNRNPU):c.2295_2298del (p.Ser764_Tyr765insTer)	HNRNPU	Deletion (nonsense)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 2582417	NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs)	HNRNPU (C575fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
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 2499521	GRCh37/hg19 1q44(chr1:245016933-245028969)x1	HNRNPU	Copy number loss	HNRNPU-related disorder	Gnot provided
Select item 2432519	NM_031844.3(HNRNPU):c.1193A>C (p.Glu398Ala)	HNRNPU (E379A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2432518	NM_031844.3(HNRNPU):c.560G>C (p.Ser187Thr)	HNRNPU (S187T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2432517	NM_031844.3(HNRNPU):c.429_446del (p.Asp143_Glu148del)	HNRNPU	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2430025	NM_031844.3(HNRNPU):c.490C>T (p.Gln164Ter)	HNRNPU (Q164*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 2430024	NM_031844.3(HNRNPU):c.1357T>G (p.Cys453Gly)	HNRNPU (C434G +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2117401	NM_031844.3(HNRNPU):c.691+16T>G	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1803039	NM_031844.3(HNRNPU):c.61A>G (p.Lys21Glu)	HNRNPU (K21E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1700096	NM_031844.3(HNRNPU):c.551del (p.Ala184fs)	HNRNPU (A184fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1646406	NM_031844.3(HNRNPU):c.691+18C>T	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1566478	NM_031844.3(HNRNPU):c.691+8C>T	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1559658	NM_031844.3(HNRNPU):c.691+10G>A	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 1324538	NM_031844.3(HNRNPU):c.857_858del (p.Thr286fs)	HNRNPU (T267fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1293504	NM_031844.3(HNRNPU):c.691+197T>C	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293436	NM_031844.3(HNRNPU):c.691+196GT[12]	HNRNPU, LOC129932913	Microsatellite (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 1288865	NM_031844.3(HNRNPU):c.691+199T>C	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282439	NM_031844.3(HNRNPU):c.*287dup	HNRNPU, SNORA100	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1270416	NM_031844.3(HNRNPU):c.691+196GT[14]	HNRNPU, LOC129932913	Microsatellite (intron variant)	not provided	GBenign
Select item 1267623	NM_031844.3(HNRNPU):c.691+187CG[6]	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 1222305	NM_031844.3(HNRNPU):c.691+196GT[11]	HNRNPU, LOC129932913	Microsatellite (intron variant)	not provided	GBenign
Select item 1219555	NM_031844.3(HNRNPU):c.*287del	HNRNPU, SNORA100	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
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 1206812	NM_031844.3(HNRNPU):c.692-345G>A	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204950	NM_031844.3(HNRNPU):c.692-317C>T	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203904	NM_031844.3(HNRNPU):c.691+126G>T	HNRNPU, LOC129932913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200641	NM_031844.3(HNRNPU):c.691+62del	HNRNPU, LOC129932913	Deletion (intron variant)	not provided	GLikely benign
Select item 1184908	NM_031844.3(HNRNPU):c.1801C>T (p.Arg601Ter)	HNRNPU (R582* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 987258	NM_031844.3(HNRNPU):c.1913-1G>A	HNRNPU	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 932065	NM_031844.3(HNRNPU):c.465G>T (p.Glu155Asp)	HNRNPU (E155D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 931451	NM_031844.3(HNRNPU):c.470G>A (p.Gly157Glu)	HNRNPU (G157E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 871338	NM_031844.3(HNRNPU):c.165del (p.Asn57fs)	HNRNPU (N57fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 623731	NM_031844.3(HNRNPU):c.17_33del (p.Val6fs)	HNRNPU (V6fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 586024	NM_031844.3(HNRNPU):c.1495-3T>C	HNRNPU	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 438295	NM_031844.3(HNRNPU):c.596dup (p.Pro200fs)	HNRNPU (P200fs)	Duplication (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 376822	NM_031844.3(HNRNPU):c.628dup (p.Ala210fs)	HNRNPU (A210fs)	Duplication (frameshift variant)	not provided	GPathogenic

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Links from Gene

Items: 46