EBLN1[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 3086859	NM_001394757.1(EBLN1):c.1091G>A (p.Gly364Glu)	EBLN1 (G364E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344065	NM_001394757.1(EBLN1):c.1072C>T (p.Arg358Cys)	EBLN1 (R358C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086858	NM_001394757.1(EBLN1):c.1064A>T (p.Asn355Ile)	EBLN1 (N355I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375382	NM_001394757.1(EBLN1):c.973A>T (p.Ile325Leu)	EBLN1 (I325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319764	NM_001394757.1(EBLN1):c.874G>T (p.Val292Leu)	EBLN1 (V292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086867	NM_001394757.1(EBLN1):c.856C>T (p.Arg286Cys)	EBLN1 (R286C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086866	NM_001394757.1(EBLN1):c.854T>C (p.Leu285Pro)	EBLN1 (L285P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407877	NM_001394757.1(EBLN1):c.766G>A (p.Ala256Thr)	EBLN1 (A256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212839	NM_001394757.1(EBLN1):c.653C>T (p.Ala218Val)	EBLN1 (A218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086865	NM_001394757.1(EBLN1):c.626T>A (p.Phe209Tyr)	EBLN1 (F209Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380778	NM_001394757.1(EBLN1):c.625T>A (p.Phe209Ile)	EBLN1 (F209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305547	NM_001394757.1(EBLN1):c.613T>G (p.Leu205Val)	EBLN1 (L205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086864	NM_001394757.1(EBLN1):c.443C>T (p.Ala148Val)	EBLN1 (A148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298705	NM_001394757.1(EBLN1):c.413G>C (p.Arg138Pro)	EBLN1 (R138P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086863	NM_001394757.1(EBLN1):c.361T>C (p.Phe121Leu)	EBLN1 (F121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366161	NM_001394757.1(EBLN1):c.335A>C (p.Glu112Ala)	EBLN1 (E112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356112	NM_001394757.1(EBLN1):c.325G>A (p.Glu109Lys)	EBLN1 (E109K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086861	NM_001394757.1(EBLN1):c.289G>A (p.Gly97Ser)	EBLN1 (G97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469583	NM_001394757.1(EBLN1):c.283A>G (p.Ser95Gly)	EBLN1 (S95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254662	NM_001394757.1(EBLN1):c.283A>C (p.Ser95Arg)	EBLN1 (S95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086860	NM_001394757.1(EBLN1):c.110G>A (p.Arg37Lys)	EBLN1 (R37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331508	NM_001394757.1(EBLN1):c.98C>T (p.Ser33Phe)	EBLN1 (S33F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268408	NM_001394757.1(EBLN1):c.29C>G (p.Thr10Ser)	EBLN1 (T10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219368	NM_001394757.1(EBLN1):c.21C>A (p.Asn7Lys)	EBLN1 (N7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808767	GRCh37/hg19 10p12.31-12.2(chr10:22208767-23220277)x3	ARMC3, BMI1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442597	GRCh37/hg19 10p12.31-12.2(chr10:21881989-23129991)x3	BMI1, COMMD3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 221472	GRCh37/hg19 10p12.31-12.2(chr10:22193496-22634700)x3	BMI1, COMMD3 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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: 38