ClinVar for MedGen (Select 1392637) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2920673	NM_133433.4(NIPBL):c.8101A>G (p.Met2701Val)	NIPBL (M2701V)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 54	GLikely benign
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
Select item 2848327	NM_031844.3(HNRNPU):c.13C>T (p.Pro5Ser)	HNRNPU (P5S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2847910	NM_031844.3(HNRNPU):c.1539G>A (p.Trp513Ter)	HNRNPU (W494* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 2847379	NM_031844.3(HNRNPU):c.2144G>A (p.Arg715His)	HNRNPU (R696H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2846379	NM_031844.3(HNRNPU):c.258G>A (p.Glu86=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2844416	NM_031844.3(HNRNPU):c.804-11_804-10del	HNRNPU	Deletion (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2844071	NM_031844.3(HNRNPU):c.729G>A (p.Lys243=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2841933	NM_031844.3(HNRNPU):c.1743+17A>C	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2841294	NM_031844.3(HNRNPU):c.944G>C (p.Ser315Thr)	HNRNPU (S296T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2841178	NM_031844.3(HNRNPU):c.435C>A (p.Leu145=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2840841	NM_031844.3(HNRNPU):c.803+4_803+6dup	HNRNPU	Duplication (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2839182	NM_031844.3(HNRNPU):c.1118-11T>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2834255	NM_031844.3(HNRNPU):c.1104T>C (p.Ser368=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2833762	NM_031844.3(HNRNPU):c.966A>C (p.Gly322=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2833061	NM_031844.3(HNRNPU):c.89_179del (p.Leu30fs)	HNRNPU (L30fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 2831761	NM_031844.3(HNRNPU):c.794dup (p.Tyr266fs)	HNRNPU (Y247fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 54	GPathogenic
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 2824197	NM_031844.3(HNRNPU):c.804-17dup	HNRNPU	Duplication (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2822962	NM_031844.3(HNRNPU):c.1085G>T (p.Gly362Val)	HNRNPU (G362V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 2821413	NM_031844.3(HNRNPU):c.1147C>G (p.Leu383Val)	HNRNPU (L383V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
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 2817741	NM_031844.3(HNRNPU):c.531C>T (p.Arg177=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2816872	NM_031844.3(HNRNPU):c.1013T>C (p.Met338Thr)	HNRNPU (M338T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 2812619	NM_031844.3(HNRNPU):c.506A>T (p.Gln169Leu)	HNRNPU (Q169L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2811714	NM_031844.3(HNRNPU):c.1282C>T (p.Leu428Phe)	HNRNPU (L409F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2809999	NM_031844.3(HNRNPU):c.1494+8A>T	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2804856	NM_031844.3(HNRNPU):c.2167+8A>G	HNRNPU	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2804465	NM_031844.3(HNRNPU):c.1933G>A (p.Val645Ile)	HNRNPU (V626I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2803582	NM_031844.3(HNRNPU):c.1362A>G (p.Ala454=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2803024	NM_031844.3(HNRNPU):c.607G>C (p.Ala203Pro)	HNRNPU (A203P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GBenign
Select item 2799119	NM_031844.3(HNRNPU):c.2059T>A (p.Ser687Thr)	HNRNPU (S668T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GUncertain significance
Select item 2797968	NM_031844.3(HNRNPU):c.190G>A (p.Gly64Arg)	HNRNPU (G64R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	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 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 2790212	NM_031844.3(HNRNPU):c.432G>A (p.Glu144=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign
Select item 2789213	NM_031844.3(HNRNPU):c.870T>G (p.Leu290=)	HNRNPU	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 54	GLikely benign

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