EBLN1[gene] - ClinVar

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Items: 44

	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	ABI1, ACBD5 +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 3274365	NM_001394757.1(EBLN1):c.733G>C (p.Asp245His)	EBLN1 (D245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274362	NM_001394757.1(EBLN1):c.676A>C (p.Lys226Gln)	EBLN1 (K226Q)	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 3274361	NM_001394757.1(EBLN1):c.415C>T (p.His139Tyr)	EBLN1 (H139Y)	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 3274364	NM_001394757.1(EBLN1):c.322A>G (p.Asn108Asp)	EBLN1 (N108D)	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 3274363	NM_001394757.1(EBLN1):c.36C>A (p.Ser12Arg)	EBLN1 (S12R)	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 3274360	NM_001394757.1(EBLN1):c.5C>T (p.Ser2Phe)	EBLN1 (S2F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 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	ARL5B, LARP4B +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)	INA, INPP5A +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	A1CF, ABCC2 +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

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Items: 44