3749[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 1241437	NM_001271012.2(FLI1):c.-203+7188del	FLI1, LOC128462394 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1284178	NM_001271012.2(FLI1):c.-203+7241GA[17]	FLI1, LOC128462394 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1280517	NM_001271012.2(FLI1):c.-203+7241GA[23]	FLI1, LOC128462394 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1276147	NM_001271012.2(FLI1):c.-203+7241GA[21]	FLI1, LOC128462394 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1235009	NM_001271012.2(FLI1):c.-203+7241GA[24]	FLI1, LOC128462394 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1232949	NM_001271012.2(FLI1):c.-203+7241GA[22]	FLI1, LOC128462394 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 2021992	NM_002017.5(FLI1):c.7G>T (p.Gly3Trp)	FLI1, LOC128462394 +1 more (G3W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 715962	NM_002017.5(FLI1):c.12T>C (p.Thr4=)	FLI1, LOC128462394 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1307796	NM_002017.5(FLI1):c.16_18delinsT (p.Ile5_Lys6insTer)	FLI1, LOC128462394 +1 more	Indel (5 prime UTR variant +2 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 2909237	NM_002017.5(FLI1):c.18+10G>A	FLI1, LOC128462394 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1971297	NM_002017.5(FLI1):c.18+18G>T	FLI1, LOC128462394 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253326	NM_002017.5(FLI1):c.18+205del	FLI1, SENCR	Deletion (intron variant)	not provided	GBenign
Select item 1283357	NM_002017.5(FLI1):c.18+226del	FLI1, SENCR	Deletion (intron variant)	not provided	GBenign
Select item 1288760	NM_002017.5(FLI1):c.18+239del	FLI1, SENCR	Deletion (intron variant)	not provided	GBenign
Select item 1282420	NM_002017.5(FLI1):c.18+247del	FLI1, SENCR	Deletion (intron variant)	not provided	GBenign
Select item 1244324	NM_002017.5(FLI1):c.18+270del	FLI1, SENCR	Deletion (intron variant)	not provided	GBenign
Select item 1252360	NM_002017.5(FLI1):c.18+306del	FLI1, SENCR	Deletion (intron variant)	not provided	GBenign
Select item 1233064	NM_002017.5(FLI1):c.18+311A>G	FLI1, SENCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227564	NM_002017.5(FLI1):c.18+316A>C	FLI1, SENCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246039	NM_002017.5(FLI1):c.19-284T>A	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2795707	NM_002017.5(FLI1):c.19-4G>T	FLI1	Single nucleotide variant (intron variant)	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 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 2027767	NM_002017.5(FLI1):c.54C>T (p.Leu18=)	FLI1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1978495	NM_002017.5(FLI1):c.62C>T (p.Ser21Leu)	FLI1 (S21L)	Single nucleotide variant (5 prime UTR 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 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 721965	NM_002017.5(FLI1):c.66G>A (p.Ala22=)	FLI1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 763535	NM_002017.5(FLI1):c.69C>T (p.Tyr23=)	FLI1	Single nucleotide variant (5 prime UTR 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 713759	NM_002017.5(FLI1):c.74C>T (p.Ala25Val)	FLI1 (A25V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1981085	NM_002017.5(FLI1):c.75G>A (p.Ala25=)	FLI1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 2038317	NM_002017.5(FLI1):c.97G>A (p.Asp33Asn)	FLI1 (D33N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 2828855	NM_002017.5(FLI1):c.105T>C (p.Thr35=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 773255	NM_002017.5(FLI1):c.111G>A (p.Ser37=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely 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 1304260	NM_002017.5(FLI1):c.142A>T (p.Ile48Phe)	FLI1 (I15F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2872233	NM_002017.5(FLI1):c.159A>T (p.Pro53=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 720450	NM_002017.5(FLI1):c.195C>T (p.Asn65=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 988011	NM_002017.5(FLI1):c.203G>T (p.Arg68Leu)	FLI1 (R35L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1274174	NM_002017.5(FLI1):c.230+202C>A	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243475	NM_002017.5(FLI1):c.230+202C>G	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234372	NM_002017.5(FLI1):c.230+249C>T	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233290	NM_002017.5(FLI1):c.231-3788C>A	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295043	NM_002017.5(FLI1):c.231-3253C>T	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246236	NM_002017.5(FLI1):c.231-305del	FLI1	Deletion (intron variant)	not provided	GBenign
Select item 1241777	NM_002017.5(FLI1):c.231-277G>A	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240783	NM_002017.5(FLI1):c.231-214C>T	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228311	NM_002017.5(FLI1):c.231-141A>G	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181710	NM_002017.5(FLI1):c.231-112C>A	FLI1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 752906	NM_002017.5(FLI1):c.240G>A (p.Pro80=)	FLI1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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

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