ClinVar for Gene (Select 3192) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3368945	NM_031844.3(HNRNPU):c.475G>C (p.Gly159Arg)	HNRNPU (G159R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367347	NM_031844.3(HNRNPU):c.250G>A (p.Glu84Lys)	HNRNPU (E84K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367162	NM_031844.3(HNRNPU):c.632dup (p.Gly212fs)	HNRNPU (G212fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic
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 3359269	NM_031844.3(HNRNPU):c.691+1G>T	HNRNPU	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 3359087	NM_031844.3(HNRNPU):c.1767G>C (p.Gln589His)	HNRNPU (Q570H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
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 3347458	NM_031844.3(HNRNPU):c.2129G>A (p.Gly710Glu)	HNRNPU (G691E +1 more)	Single nucleotide variant (missense variant)	HNRNPU-related disorder	GUncertain significance
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 3342233	NM_031844.3(HNRNPU):c.373_374delinsCC (p.Glu125Pro)	HNRNPU (E125P)	Indel (missense variant)	not provided	GLikely benign
Select item 3338046	NM_031844.3(HNRNPU):c.2389_2390del (p.Asn797fs)	HNRNPU (N778fs +1 more)	Deletion (frameshift variant)	Seizure	GPathogenic
Select item 3337162	NM_031844.3(HNRNPU):c.1117+1G>A	HNRNPU	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3284585	NM_031844.3(HNRNPU):c.682C>T (p.Pro228Ser)	HNRNPU (P228S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3248036	NC_000001.10:g.(?_241661128)_(245027609_?)del	ADSS2, AKT3 +16 more	Deletion	not provided	GUncertain significance
Select item 3247852	NC_000001.10:g.(?_244999017)_(245020178_?)dup	COX20, HNRNPU	Duplication	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 3247850	NC_000001.10:g.(?_245018389)_(245019742_?)del	HNRNPU	Deletion	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 3247849	NC_000001.10:g.(?_243668551)_(245027609_?)del	ADSS2, AKT3 +6 more	Deletion	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 3247844	NC_000001.10:g.(?_241661128)_(245027609_?)dup	ADSS2, AKT3 +16 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3242282	GRCh37/hg19 1q43-44(chr1:243364757-245372332)x1	ADSS2, AKT3 +10 more	Copy number loss	not provided	GPathogenic
Select item 3106444	NM_031844.3(HNRNPU):c.650A>G (p.Glu217Gly)	HNRNPU (E217G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 3106440	NM_031844.3(HNRNPU):c.2128G>A (p.Gly710Arg)	HNRNPU (G710R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075961	NM_031844.3(HNRNPU):c.1142dup (p.Tyr381Ter)	HNRNPU (Y362* +1 more)	Duplication (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
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 3063488	GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1	ADSS2, AKT3 +9 more	Copy number loss	not specified	GPathogenic
Select item 3063232	GRCh37/hg19 1q44(chr1:245007762-245037711)x1	COX20, HNRNPU	Copy number loss	not specified	GPathogenic
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062700	GRCh37/hg19 1q44(chr1:244579324-246515944)x1	ADSS2, CATSPERE +6 more	Copy number loss	not specified	GPathogenic
Select item 3062065	NM_031844.3(HNRNPU):c.584del (p.Ala195fs)	HNRNPU (A195fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 3058309	NM_031844.3(HNRNPU):c.2148T>C (p.Gly716=)	HNRNPU	Single nucleotide variant (synonymous variant)	HNRNPU-related disorder	GLikely benign
Select item 3057608	NM_031844.3(HNRNPU):c.1308G>A (p.Lys436=)	HNRNPU	Single nucleotide variant (synonymous variant)	HNRNPU-related disorder	GLikely benign
Select item 3055244	NM_031844.3(HNRNPU):c.184C>G (p.Leu62Val)	HNRNPU (L62V)	Single nucleotide variant (missense variant)	HNRNPU-related disorder	GUncertain significance
Select item 3026990	NM_031844.3(HNRNPU):c.697G>A (p.Gly233Ser)	HNRNPU (G214S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026641	NM_031844.3(HNRNPU):c.479A>T (p.Glu160Val)	HNRNPU (E160V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026637	NM_031844.3(HNRNPU):c.436G>C (p.Gly146Arg)	HNRNPU (G146R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024530	NM_031844.3(HNRNPU):c.1614+2T>A	HNRNPU	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 3023004	NM_031844.3(HNRNPU):c.1680C>G (p.Pro560=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 3021740	NM_031844.3(HNRNPU):c.1495-16C>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 3014396	NM_031844.3(HNRNPU):c.1231-12T>C	HNRNPU	Single nucleotide variant (intron 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 3012462	NM_031844.3(HNRNPU):c.2127T>G (p.Arg709=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 3012110	NM_031844.3(HNRNPU):c.72C>T (p.Arg24=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 3002353	NM_031844.3(HNRNPU):c.666C>T (p.Gly222=)	HNRNPU	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2998443	NM_031844.3(HNRNPU):c.571A>G (p.Thr191Ala)	HNRNPU (T191A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2992789	NM_031844.3(HNRNPU):c.1744-20A>C	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
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 2989905	NM_031844.3(HNRNPU):c.1435G>A (p.Val479Ile)	HNRNPU (V460I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2988596	NM_031844.3(HNRNPU):c.804-20G>A	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2988142	NM_031844.3(HNRNPU):c.1409C>G (p.Pro470Arg)	HNRNPU (P470R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2983746	NM_031844.3(HNRNPU):c.233C>T (p.Ala78Val)	HNRNPU (A78V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
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 2979945	NM_031844.3(HNRNPU):c.435C>T (p.Leu145=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2974474	NM_031844.3(HNRNPU):c.527A>G (p.Gln176Arg)	HNRNPU (Q176R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2973200	NM_031844.3(HNRNPU):c.1017+5A>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2972644	NM_031844.3(HNRNPU):c.1569G>A (p.Gly523=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2967206	NM_031844.3(HNRNPU):c.219C>T (p.Gly73=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2966499	NM_031844.3(HNRNPU):c.163C>T (p.Pro55Ser)	HNRNPU (P55S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2965645	NM_031844.3(HNRNPU):c.557A>T (p.Lys186Met)	HNRNPU (K186M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GBenign
Select item 2964757	NM_031844.3(HNRNPU):c.804-11C>T	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2964328	NM_031844.3(HNRNPU):c.1300A>G (p.Ile434Val)	HNRNPU (I415V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2957728	NM_031844.3(HNRNPU):c.747A>C (p.Pro249=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2955487	NM_031844.3(HNRNPU):c.542A>C (p.Lys181Thr)	HNRNPU (K181T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GBenign
Select item 2919057	NM_031844.3(HNRNPU):c.24A>G (p.Val8=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
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 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 2914302	NM_031844.3(HNRNPU):c.1470G>T (p.Gly490=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2914195	NM_031844.3(HNRNPU):c.389A>G (p.Asp130Gly)	HNRNPU (D130G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2910364	NM_031844.3(HNRNPU):c.1912+17C>A	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2907208	NM_031844.3(HNRNPU):c.1913-3C>T	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2899352	NM_031844.3(HNRNPU):c.1614+20C>T	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2898208	NM_031844.3(HNRNPU):c.96C>G (p.Ala32=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2897625	NM_031844.3(HNRNPU):c.1017+15A>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2893897	NM_031844.3(HNRNPU):c.933T>A (p.Leu311=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2890923	NM_031844.3(HNRNPU):c.1494+9T>C	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2889352	NM_031844.3(HNRNPU):c.1018-7C>T	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2888528	NM_031844.3(HNRNPU):c.524A>G (p.Gln175Arg)	HNRNPU (Q175R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2887237	NM_031844.3(HNRNPU):c.1034C>T (p.Pro345Leu)	HNRNPU (P326L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2885244	NM_031844.3(HNRNPU):c.1254A>G (p.Glu418=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2877547	NM_031844.3(HNRNPU):c.417G>A (p.Gln139=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2875598	NM_031844.3(HNRNPU):c.2139T>C (p.Asn713=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2875144	NM_031844.3(HNRNPU):c.1032C>A (p.Ile344=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2869444	NM_031844.3(HNRNPU):c.1230+14A>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2867969	NM_031844.3(HNRNPU):c.1231-12dup	HNRNPU	Duplication (intron variant)	Developmental and epileptic encephalopathy, 54	GBenign
Select item 2866800	NM_031844.3(HNRNPU):c.1241G>A (p.Ser414Asn)	HNRNPU (S414N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2866125	NM_031844.3(HNRNPU):c.1494+19_1494+21del	HNRNPU	Deletion (intron variant)	Developmental and epileptic encephalopathy, 54	GBenign
Select item 2864946	NM_031844.3(HNRNPU):c.376G>C (p.Ala126Pro)	HNRNPU (A126P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2863592	NM_031844.3(HNRNPU):c.39G>C (p.Val13=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2861951	NM_031844.3(HNRNPU):c.692-13G>A	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2858373	NM_031844.3(HNRNPU):c.296T>C (p.Leu99Pro)	HNRNPU (L99P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
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 2856622	NM_031844.3(HNRNPU):c.618C>T (p.Gly206=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2854825	NM_031844.3(HNRNPU):c.878-18T>C	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2852963	NM_031844.3(HNRNPU):c.249_254del (p.Asp83_Glu84del)	HNRNPU	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2852770	NM_031844.3(HNRNPU):c.239C>A (p.Ala80Asp)	HNRNPU (A80D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2851388	NM_031844.3(HNRNPU):c.731G>A (p.Arg244Lys)	HNRNPU (R225K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2851305	NM_031844.3(HNRNPU):c.2025G>A (p.Lys675=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
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

<< First< Prev

Page of 10