ClinVar for Gene (Select 2313) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279161	NM_002017.5(FLI1):c.149C>T (p.Pro50Leu)	FLI1 (P17L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3095636	NM_002017.5(FLI1):c.239C>T (p.Pro80Leu)	FLI1 (P80L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067708	NM_002017.5(FLI1):c.476T>A (p.Phe159Tyr)	FLI1 (F126Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3061234	NM_002017.5(FLI1):c.288G>A (p.Glu96=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	FLI1-related disorder	GLikely benign
Select item 3046375	NM_002017.5(FLI1):c.825C>T (p.Asn275=)	FLI1	Single nucleotide variant (synonymous variant)	FLI1-related disorder	GLikely benign
Select item 3046224	NM_002017.5(FLI1):c.252C>T (p.Ser84=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	FLI1-related disorder	GLikely benign
Select item 3039852	NM_002017.5(FLI1):c.150C>A (p.Pro50=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	FLI1-related disorder	GLikely benign
Select item 3036662	NM_002017.5(FLI1):c.830-7C>T	FLI1	Single nucleotide variant (intron variant)	FLI1-related disorder	GLikely benign
Select item 3036291	NM_002017.5(FLI1):c.900C>T (p.Ile300=)	FLI1	Single nucleotide variant (synonymous variant)	FLI1-related disorder	GLikely benign
Select item 3031393	NM_002017.5(FLI1):c.451T>C (p.Leu151=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	FLI1-related disorder	GLikely benign
Select item 3029389	NM_002017.5(FLI1):c.36G>A (p.Val12=)	FLI1	Single nucleotide variant (5 prime UTR variant +1 more)	FLI1-related disorder	GLikely benign
Select item 3013168	NM_002017.5(FLI1):c.1178C>T (p.Ala393Val)	FLI1 (A200V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991212	NM_002017.5(FLI1):c.552G>A (p.Thr184=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956133	NM_002017.5(FLI1):c.386-7T>A	FLI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920381	NM_002017.5(FLI1):c.1332G>A (p.Val444=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918135	NM_002017.5(FLI1):c.888C>T (p.Asn296=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909237	NM_002017.5(FLI1):c.18+10G>A	FLI1, LOC128462394 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907700	NM_002017.5(FLI1):c.1119G>A (p.Pro373=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904754	NM_002017.5(FLI1):c.532G>A (p.Ala178Thr)	FLI1 (A112T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2900107	NM_002017.5(FLI1):c.285C>T (p.Gly95=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899516	NM_002017.5(FLI1):c.113G>A (p.Gly38Glu)	FLI1 (G5E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897213	NM_002017.5(FLI1):c.18+8G>A	FLI1, LOC128462394 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895733	NM_002017.5(FLI1):c.739G>A (p.Ala247Thr)	FLI1 (A214T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893151	NM_002017.5(FLI1):c.96C>T (p.Ala32=)	FLI1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2889132	NM_002017.5(FLI1):c.435C>A (p.Ala145=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889011	NM_002017.5(FLI1):c.30G>A (p.Ser10=)	FLI1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2888645	NM_002017.5(FLI1):c.1313G>A (p.Arg438His)	FLI1 (R405H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886672	NM_002017.5(FLI1):c.1280C>T (p.Thr427Met)	FLI1 (T361M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883662	NM_002017.5(FLI1):c.1236C>T (p.Ser412=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882075	NM_002017.5(FLI1):c.1132A>G (p.Met378Val)	FLI1 (M378V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881697	NM_002017.5(FLI1):c.717C>T (p.Asn239=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881309	NM_002017.5(FLI1):c.385+16G>A	FLI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879094	NM_002017.5(FLI1):c.804G>A (p.Pro268=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878552	NM_002017.5(FLI1):c.1311C>G (p.Pro437=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877337	NM_002017.5(FLI1):c.656-15G>C	FLI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876932	NM_002017.5(FLI1):c.889G>A (p.Ala297Thr)	FLI1 (A231T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875003	NM_002017.5(FLI1):c.386-17C>T	FLI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874808	NM_002017.5(FLI1):c.385+8G>A	FLI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874005	NM_002017.5(FLI1):c.99C>T (p.Asp33=)	FLI1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2872233	NM_002017.5(FLI1):c.159A>T (p.Pro53=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872096	NM_002017.5(FLI1):c.1326C>A (p.Thr442=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871476	NM_002017.5(FLI1):c.252C>A (p.Ser84Arg)	FLI1 (S18R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870008	NM_002017.5(FLI1):c.18+18G>A	FLI1, LOC128462394 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869747	NM_002017.5(FLI1):c.321C>A (p.Asp107Glu)	FLI1 (D74E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868563	NM_002017.5(FLI1):c.1128G>A (p.Ser376=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866286	NM_002017.5(FLI1):c.386-9C>T	FLI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855668	NM_002017.5(FLI1):c.321C>T (p.Asp107=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2843096	NM_002017.5(FLI1):c.322G>A (p.Glu108Lys)	FLI1 (E108K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2828855	NM_002017.5(FLI1):c.105T>C (p.Thr35=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2828283	NM_002017.5(FLI1):c.834C>A (p.Ser278Arg)	FLI1 (S212R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820540	NM_002017.5(FLI1):c.1090G>A (p.Gly364Ser)	FLI1 (G298S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815611	NM_002017.5(FLI1):c.1232C>A (p.Thr411Asn)	FLI1 (T345N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814834	NM_002017.5(FLI1):c.1156T>A (p.Ser386Thr)	FLI1 (S386T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809682	NM_002017.5(FLI1):c.481A>G (p.Asn161Asp)	FLI1 (N128D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2801260	NM_002017.5(FLI1):c.63A>G (p.Ser21=)	FLI1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2795707	NM_002017.5(FLI1):c.19-4G>T	FLI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788813	NM_002017.5(FLI1):c.638G>A (p.Arg213Gln)	FLI1 (R213Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785775	NM_002017.5(FLI1):c.608A>G (p.Asn203Ser)	FLI1 (N137S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783179	NM_002017.5(FLI1):c.110C>T (p.Ser37Leu)	FLI1 (S37L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2780597	NM_002017.5(FLI1):c.830-10C>T	FLI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766745	NM_002017.5(FLI1):c.65C>T (p.Ala22Val)	FLI1 (A22V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2744531	NM_002017.5(FLI1):c.324G>A (p.Glu108=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717857	NM_002017.5(FLI1):c.70G>A (p.Gly24Arg)	FLI1 (G24R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2695130	NM_002017.5(FLI1):c.1145C>T (p.Pro382Leu)	FLI1 (P189L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684659	GRCh37/hg19 11q24.3(chr11:128577471-128867773)x3	ARHGAP32, FLI1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2682295	NC_000011.9:g.(128628222_128638012)_(128651919_128675260)dup	FLI1	Duplication	not specified	GUncertain significance
Select item 2672487	NM_002017.5(FLI1):c.105T>G (p.Thr35=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2629718	NM_002017.5(FLI1):c.1123G>A (p.Glu375Lys)	FLI1 (E182K +3 more)	Single nucleotide variant (missense variant)	FLI1-related disorder	GUncertain significance
Select item 2531628	NM_002017.5(FLI1):c.200A>C (p.Lys67Thr)	FLI1 (K34T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506873	NM_002017.5(FLI1):c.1134G>A (p.Met378Ile)	FLI1 (M185I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2496412	NM_002017.5(FLI1):c.815G>A (p.Arg272His)	FLI1 (R272H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490670	NM_002017.5(FLI1):c.1329C>A (p.His443Gln)	FLI1 (H377Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488033	NM_002017.5(FLI1):c.1331T>G (p.Val444Gly)	FLI1 (V411G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466688	NM_002017.5(FLI1):c.467C>T (p.Thr156Ile)	FLI1 (T90I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424345	NC_000011.9:g.(?_128564154)_(128786626_?)del	FLI1, KCNJ1 +2 more	Deletion	not provided	GUncertain significance
Select item 2424344	NC_000011.9:g.(?_128564154)_(128564191_?)dup	FLI1	Duplication	not provided	GUncertain significance
Select item 2416597	NM_002017.5(FLI1):c.483C>T (p.Asn161=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2414167	NM_002017.5(FLI1):c.534C>T (p.Ala178=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2406135	NM_002017.5(FLI1):c.551C>T (p.Thr184Met)	FLI1 (T118M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2327128	NM_002017.5(FLI1):c.1330G>A (p.Val444Met)	FLI1 (V251M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2275744	NM_002017.5(FLI1):c.1304A>G (p.Asn435Ser)	FLI1 (N242S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275046	NM_002017.5(FLI1):c.667G>C (p.Asp223His)	FLI1 (D157H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264382	NM_002017.5(FLI1):c.77C>T (p.Ala26Val)	FLI1 (A26V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208588	NM_002017.5(FLI1):c.530G>A (p.Arg177His)	FLI1 (R144H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2206577	NM_002017.5(FLI1):c.662C>T (p.Ser221Phe)	FLI1 (S221F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196521	NM_002017.5(FLI1):c.477C>G (p.Phe159Leu)	FLI1 (F126L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2195253	NM_002017.5(FLI1):c.253G>A (p.Val85Ile)	FLI1 (V85I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190278	NM_002017.5(FLI1):c.1122C>T (p.Thr374=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184243	NM_002017.5(FLI1):c.92A>G (p.Lys31Arg)	FLI1 (K31R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2184233	NM_002017.5(FLI1):c.235T>C (p.Ser79Pro)	FLI1 (S46P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180038	NM_002017.5(FLI1):c.1068T>C (p.Tyr356=)	FLI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168804	NM_002017.5(FLI1):c.531C>T (p.Arg177=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2128639	NM_002017.5(FLI1):c.830-15C>A	FLI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115413	NM_002017.5(FLI1):c.333C>G (p.Gly111=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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