220296[geneid] - 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	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +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	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 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	LOC130007028, LOC130007029 +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 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 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 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 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 149014	GRCh38/hg38 11q24.2(chr11:124565941-125095785)x1	CCDC15, ESAM +37 more	Copy number loss	See cases	GUncertain significance
Select item 880242	NM_152722.5(HEPACAM):c.*1852C>T	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303288	NM_152722.5(HEPACAM):c.*1852C>G	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303289	NM_152722.5(HEPACAM):c.*1794GTTT[3]	HEPACAM, HEPN1	Microsatellite (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GBenign
Select item 303290	NM_152722.5(HEPACAM):c.*1799T>C	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 880243	NM_152722.5(HEPACAM):c.*1634A>G	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303291	NM_152722.5(HEPACAM):c.*1614A>T	HEPN1, HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GBenign
Select item 880244	NM_152722.5(HEPACAM):c.*1479T>C	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GLikely benign
Select item 303292	NM_152722.5(HEPACAM):c.*1476C>T	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303293	NM_152722.5(HEPACAM):c.*1451del	HEPACAM, HEPN1	Deletion (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303294	NM_152722.5(HEPACAM):c.*1283CCT[2]	HEPACAM, HEPN1	Microsatellite (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303295	NM_152722.5(HEPACAM):c.*1279A>G	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GBenign
Select item 303296	NM_152722.5(HEPACAM):c.*1278C>T	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 877471	NM_152722.5(HEPACAM):c.*1235G>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303297	NM_152722.5(HEPACAM):c.*1206T>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GBenign
Select item 303298	NM_152722.5(HEPACAM):c.*1033A>G	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 877472	NM_152722.5(HEPACAM):c.*1024G>C	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303299	NM_152722.5(HEPACAM):c.*989G>T	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303300	NM_152722.5(HEPACAM):c.*943G>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303301	NM_152722.5(HEPACAM):c.*862C>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 878496	NM_152722.5(HEPACAM):c.*831G>T	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GLikely benign
Select item 878497	NM_152722.5(HEPACAM):c.*727G>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 878498	NM_152722.5(HEPACAM):c.*709C>T	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 878499	NM_152722.5(HEPACAM):c.*666G>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303302	NM_152722.5(HEPACAM):c.*629G>A	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303303	NM_152722.5(HEPACAM):c.*472T>G	HEPACAM, HEPN1	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GLikely benign
Select item 303307	NM_152722.5(HEPACAM):c.459_460insCC	HEPACAM	Insertion (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303306	NM_152722.5(HEPACAM):c.*460G>T	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303305	NM_152722.5(HEPACAM):c.456_460del	HEPACAM	Deletion (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303304	NM_152722.5(HEPACAM):c.457_460del	HEPACAM	Deletion (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 879073	NM_152722.5(HEPACAM):c.*459T>C	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303308	NM_152722.5(HEPACAM):c.*459T>G	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 879074	NM_152722.5(HEPACAM):c.*458T>C	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303309	NM_152722.5(HEPACAM):c.*419G>C	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303310	NM_152722.5(HEPACAM):c.*411G>C	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303311	NM_152722.5(HEPACAM):c.*392C>T	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303312	NM_152722.5(HEPACAM):c.*363dup	HEPACAM	Duplication (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 879075	NM_152722.5(HEPACAM):c.*342G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303313	NM_152722.5(HEPACAM):c.*338C>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GBenign
Select item 303314	NM_152722.5(HEPACAM):c.*270C>G	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GLikely benign
Select item 303315	NM_152722.5(HEPACAM):c.*207G>T	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303316	NM_152722.5(HEPACAM):c.*192T>C	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303317	NM_152722.5(HEPACAM):c.*116dup	HEPACAM	Duplication (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303318	NM_152722.5(HEPACAM):c.*116G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303321	NM_152722.5(HEPACAM):c.*112G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303320	NM_152722.5(HEPACAM):c.*112G>C	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303319	NM_152722.5(HEPACAM):c.*112G>T	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GBenign
Select item 303322	NM_152722.5(HEPACAM):c.*105G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303323	NM_152722.5(HEPACAM):c.*88G>T	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 303324	NM_152722.5(HEPACAM):c.*83G>A	HEPACAM	Single nucleotide variant (3 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 262676	NM_152722.5(HEPACAM):c.*50C>G	HEPACAM	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 1955313	NM_152722.5(HEPACAM):c.1237G>A (p.Glu413Lys)	HEPACAM (E465K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300413	NM_152722.5(HEPACAM):c.1218A>C (p.Gln406His)	HEPACAM (Q406H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683880	NM_152722.5(HEPACAM):c.1213G>A (p.Glu405Lys)	HEPACAM (E405K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095120	NM_152722.5(HEPACAM):c.1210C>G (p.Arg404Gly)	HEPACAM (R404G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393149	NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met)	HEPACAM (V400M)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +4 more	GUncertain significance
Select item 389281	NM_152722.5(HEPACAM):c.1197C>T (p.Gly399=)	HEPACAM	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1304045	NM_152722.5(HEPACAM):c.1180A>G (p.Thr394Ala)	HEPACAM (T394A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203684	NM_152722.5(HEPACAM):c.1169_1180del (p.Ser390_Arg393del)	HEPACAM	Deletion (inframe_deletion)	not specified +2 more	GUncertain significance
Select item 1974880	NM_152722.5(HEPACAM):c.1178G>A (p.Arg393His)	HEPACAM (R393H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424997	NM_152722.5(HEPACAM):c.1176G>A (p.Ser392=)	HEPACAM	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2149686	NM_152722.5(HEPACAM):c.1166G>A (p.Arg389His)	HEPACAM (R389H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2396180	NM_152722.5(HEPACAM):c.1165C>G (p.Arg389Gly)	HEPACAM (R389G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1450445	NM_152722.5(HEPACAM):c.1164_1165delinsAG (p.Arg389Gly)	HEPACAM (R389G)	Indel (missense variant)	not provided	GUncertain significance
Select item 716325	NM_152722.5(HEPACAM):c.1164G>A (p.Ser388=)	HEPACAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683404	NM_152722.5(HEPACAM):c.1153C>T (p.Pro385Ser)	HEPACAM (P385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710664	NM_152722.5(HEPACAM):c.1145C>T (p.Pro382Leu)	HEPACAM (P382L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087439	NM_152722.5(HEPACAM):c.1138A>G (p.Arg380Gly)	HEPACAM (R380G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 877515	NM_152722.5(HEPACAM):c.1128G>A (p.Ser376=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
Select item 1431540	NM_152722.5(HEPACAM):c.1127C>T (p.Ser376Leu)	HEPACAM (S376L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2490780	NM_152722.5(HEPACAM):c.1125C>G (p.His375Gln)	HEPACAM (H375Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2992951	NM_152722.5(HEPACAM):c.1086GCGCTCCCCAGC[3] (p.Ala370_Thr371insArgSerProAla)	HEPACAM	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1344924	NM_152722.5(HEPACAM):c.1086GCGCTCCCCAGC[1] (p.363RSPA[1])	HEPACAM	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2170367	NM_152722.5(HEPACAM):c.1101C>T (p.Arg367=)	HEPACAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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