11553[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 56

	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 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 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 2493380	NM_003186.5(TAGLN):c.70G>A (p.Glu24Lys)	TAGLN (E24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588942	NM_003186.5(TAGLN):c.178G>A (p.Val60Met)	TAGLN (V60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510764	NM_003186.5(TAGLN):c.208T>C (p.Tyr70His)	TAGLN (Y70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791178	NM_003186.5(TAGLN):c.229G>C (p.Val77Leu)	TAGLN (V77L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3173650	NM_003186.5(TAGLN):c.243G>T (p.Glu81Asp)	TAGLN (E81D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218889	NM_003186.5(TAGLN):c.259G>C (p.Val87Leu)	TAGLN (V87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246033	NM_003186.5(TAGLN):c.278A>G (p.Gln93Arg)	TAGLN (Q93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386411	NM_003186.5(TAGLN):c.284C>T (p.Ala95Val)	TAGLN (A95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541501	NM_003186.5(TAGLN):c.424G>T (p.Asp142Tyr)	TAGLN (D142Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173651	NM_003186.5(TAGLN):c.425A>T (p.Asp142Val)	TAGLN (D142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779318	NM_003186.5(TAGLN):c.461+4T>C	TAGLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2456792	NM_003186.5(TAGLN):c.534G>T (p.Gln178His)	TAGLN (Q178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381647	NM_003186.5(TAGLN):c.539G>A (p.Gly180Asp)	TAGLN (G180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779375	NM_003186.5(TAGLN):c.545A>G (p.Asn182Ser)	TAGLN (N182S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2261639	NM_003186.5(TAGLN):c.550G>C (p.Gly184Arg)	TAGLN (G184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173652	NM_003186.5(TAGLN):c.563C>A (p.Ala188Asp)	TAGLN (A188D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787098	NM_003186.5(TAGLN):c.579C>T (p.Tyr193=)	TAGLN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3305255	NM_004716.4(PCSK7):c.2354G>A (p.Cys785Tyr)	PCSK7, TAGLN (C785Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 790849	NM_004716.4(PCSK7):c.2330C>T (p.Pro777Leu)	PCSK7, TAGLN (P777L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2470863	NM_004716.4(PCSK7):c.2288A>C (p.Asn763Thr)	PCSK7, TAGLN (N763T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2238664	NM_004716.4(PCSK7):c.2284C>G (p.Gln762Glu)	PCSK7, TAGLN (Q762E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210482	NM_004716.4(PCSK7):c.2197G>A (p.Glu733Lys)	PCSK7, TAGLN (E733K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2544616	NM_004716.4(PCSK7):c.2060A>G (p.Tyr687Cys)	PCSK7, TAGLN (Y687C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2261270	NM_004716.4(PCSK7):c.2053G>A (p.Glu685Lys)	PCSK7, TAGLN (E685K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210481	NM_004716.4(PCSK7):c.2006T>C (p.Val669Ala)	PCSK7, TAGLN (V669A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2642406	NM_004716.4(PCSK7):c.1917C>T (p.His639=)	PCSK7, TAGLN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2308300	NM_004716.4(PCSK7):c.1853G>C (p.Ser618Thr)	PCSK7, TAGLN (S618T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	APOA1, APOA4 +17 more	Deletion	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	RASopathy +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	APOA4, ABCG4 +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56