ClinVar for Gene (Select 8518) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245323	NC_000009.11:g.(?_111674524)_(111693426_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3245322	NC_000009.11:g.(?_111640255)_(111662675_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3245321	NC_000009.11:g.(?_111631395)_(111663981_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3245320	NC_000009.11:g.(?_111679807)_(111679970_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3245319	NC_000009.11:g.(?_111678464)_(111678597_?)del	ELP1	Deletion	not provided	GPathogenic
Select item 3245318	NC_000009.11:g.(?_111631395)_(111929571_?)del	ABITRAM, CTNNAL1 +4 more	Deletion	not provided	GPathogenic
Select item 3223537	NM_003640.5(ELP1):c.1638T>C (p.Asn546=)	ELP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3088494	NM_003640.5(ELP1):c.730C>G (p.Leu244Val)	ELP1 (L244V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088493	NM_003640.5(ELP1):c.361C>G (p.Gln121Glu)	ELP1 (Q121E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088492	NM_003640.5(ELP1):c.3502G>A (p.Glu1168Lys)	ELP1 (E1054K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088491	NM_003640.5(ELP1):c.2497C>T (p.His833Tyr)	ELP1 (H484Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088490	NM_003640.5(ELP1):c.2329G>C (p.Val777Leu)	ELP1 (V777L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088489	NM_003640.5(ELP1):c.1522T>C (p.Trp508Arg)	ELP1 (W159R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063113	GRCh37/hg19 9q31.3(chr9:111638923-112074439)x3	ABITRAM, CTNNAL1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063100	GRCh37/hg19 9q31.3(chr9:111657648-111674731)x1	ELP1	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3024067	NM_003640.5(ELP1):c.2204+18G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022356	NM_003640.5(ELP1):c.1680A>G (p.Leu560=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022190	NM_003640.5(ELP1):c.3931+17A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021829	NM_003640.5(ELP1):c.3572+19C>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021773	NM_003640.5(ELP1):c.738G>A (p.Trp246Ter)	ELP1 (W132* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3020674	NM_003640.5(ELP1):c.466+20A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020124	NM_003640.5(ELP1):c.1821C>T (p.Cys607=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019277	NM_003640.5(ELP1):c.2004T>C (p.Ala668=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018341	NM_003640.5(ELP1):c.2204+13G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017451	NM_003640.5(ELP1):c.2364-17T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016866	NM_003640.5(ELP1):c.3700+13T>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016384	NM_003640.5(ELP1):c.1293A>G (p.Ala431=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016351	NM_003640.5(ELP1):c.1461-11A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015699	NM_003640.5(ELP1):c.505C>T (p.Gln169Ter)	ELP1 (Q169* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3014451	NM_003640.5(ELP1):c.303+16C>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013120	NM_003640.5(ELP1):c.3286-14G>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012627	NM_003640.5(ELP1):c.3855+13del	ELP1	Deletion (intron variant)	not provided	GLikely benign
Select item 3012149	NM_003640.5(ELP1):c.2587+17A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010925	NM_003640.5(ELP1):c.3855+16G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010575	NM_003640.5(ELP1):c.2736+8G>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010248	NM_003640.5(ELP1):c.2736+1G>A	ELP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3009320	NM_003640.5(ELP1):c.1953A>G (p.Leu651=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008506	NM_003640.5(ELP1):c.3852C>T (p.Thr1284=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008148	NM_003640.5(ELP1):c.385+15G>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003442	NM_003640.5(ELP1):c.1626T>C (p.His542=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002625	NM_003640.5(ELP1):c.2014+14G>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997537	NM_003640.5(ELP1):c.1643+1G>A	ELP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2997400	NM_003640.5(ELP1):c.2985C>T (p.His995=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996918	NM_003640.5(ELP1):c.2587+18G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987988	NM_003640.5(ELP1):c.3240G>T (p.Val1080=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985145	NM_003640.5(ELP1):c.1190-12T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984344	NM_003640.5(ELP1):c.3246G>A (p.Leu1082=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982285	NM_003640.5(ELP1):c.2657dup (p.Asp886fs)	ELP1 (D537fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2980667	NM_003640.5(ELP1):c.1189+16G>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979953	NM_003640.5(ELP1):c.282C>T (p.Leu94=)	ELP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2978607	NM_003640.5(ELP1):c.2412T>C (p.Ser804=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978197	NM_003640.5(ELP1):c.151-14T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976313	NM_003640.5(ELP1):c.1460+11A>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976312	NM_003640.5(ELP1):c.1460+13T>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975480	NM_003640.5(ELP1):c.649+15T>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975243	NM_003640.5(ELP1):c.628_631dup (p.Val211fs)	ELP1 (V211fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2973880	NM_003640.5(ELP1):c.2363+18T>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969941	NM_003640.5(ELP1):c.864+17G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968976	NM_003640.5(ELP1):c.3855+12C>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968138	NM_003640.5(ELP1):c.386-15_386-12del	ELP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2964524	NM_003640.5(ELP1):c.553-8C>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963957	NM_003640.5(ELP1):c.1854+19G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963853	NM_003640.5(ELP1):c.2958+14G>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963013	NM_003640.5(ELP1):c.2736+12T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962263	NM_003640.5(ELP1):c.564T>C (p.Ala188=)	ELP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961874	NM_003640.5(ELP1):c.2860_2860+1delinsTA	ELP1	Indel (splice donor variant)	not provided	GLikely pathogenic
Select item 2961686	NM_003640.5(ELP1):c.2015-11G>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961582	NM_003640.5(ELP1):c.1361-15A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961061	NM_003640.5(ELP1):c.2284-11T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955251	NM_003640.5(ELP1):c.959-20C>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955229	NM_003640.5(ELP1):c.552+20T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955118	NM_003640.5(ELP1):c.3573-20A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918222	NM_003640.5(ELP1):c.2588-17T>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917600	NM_003640.5(ELP1):c.1361-17G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917145	NM_003640.5(ELP1):c.2131-20A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916313	NM_003640.5(ELP1):c.3897T>G (p.Ser1299=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916303	NM_003640.5(ELP1):c.2131-19C>T	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915535	NM_003640.5(ELP1):c.3460+14T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914998	NM_003640.5(ELP1):c.2284-12T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914569	NM_003640.5(ELP1):c.3572+20A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914259	NM_003640.5(ELP1):c.3286-1G>A	ELP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2913169	NM_003640.5(ELP1):c.3726A>G (p.Val1242=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911156	NM_003640.5(ELP1):c.3700+18A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910505	NM_003640.5(ELP1):c.865-11T>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909147	NM_003640.5(ELP1):c.1855-18A>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909110	NM_003640.5(ELP1):c.3285+15A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908975	NM_003640.5(ELP1):c.467-4G>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908766	NM_003640.5(ELP1):c.3136G>T (p.Val1046Leu)	ELP1 (V932L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907197	NM_003640.5(ELP1):c.3461-9_3461-7del	ELP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2906636	NM_003640.5(ELP1):c.3160+12C>A	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905887	NM_003640.5(ELP1):c.1643+2T>C	ELP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2905183	NM_003640.5(ELP1):c.3701-17A>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904832	NM_003640.5(ELP1):c.3286-20T>C	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904581	NM_003640.5(ELP1):c.1854+11A>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903169	NM_003640.5(ELP1):c.2376C>T (p.Val792=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902739	NM_003640.5(ELP1):c.1570C>T (p.Pro524Ser)	ELP1 (P175S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901488	NM_003640.5(ELP1):c.1566C>T (p.Phe522=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900487	NM_003640.5(ELP1):c.3828T>C (p.Leu1276=)	ELP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898155	NM_003640.5(ELP1):c.2284-19T>G	ELP1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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