ELOVL3[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 2325444	NM_152310.3(ELOVL3):c.13A>G (p.Met5Val)	ELOVL3 (M5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243325	NM_152310.3(ELOVL3):c.17A>G (p.Asn6Ser)	ELOVL3 (N6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485221	NM_152310.3(ELOVL3):c.19G>A (p.Val7Ile)	ELOVL3 (V7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357724	NM_152310.3(ELOVL3):c.20T>G (p.Val7Gly)	ELOVL3 (V7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088470	NM_152310.3(ELOVL3):c.164T>G (p.Met55Arg)	ELOVL3 (M55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306323	NM_152310.3(ELOVL3):c.202A>G (p.Ile68Val)	ELOVL3 (I68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552563	NM_152310.3(ELOVL3):c.267G>A (p.Met89Ile)	ELOVL3 (M89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088471	NM_152310.3(ELOVL3):c.278T>C (p.Leu93Pro)	ELOVL3 (L93P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371359	NM_152310.3(ELOVL3):c.286G>A (p.Gly96Arg)	ELOVL3 (G96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275223	NM_152310.3(ELOVL3):c.289G>A (p.Gly97Ser)	ELOVL3 (G97S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088472	NM_152310.3(ELOVL3):c.304G>A (p.Val102Met)	ELOVL3 (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286173	NM_152310.3(ELOVL3):c.433C>T (p.His145Tyr)	ELOVL3 (H145Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323251	NM_152310.3(ELOVL3):c.449G>T (p.Ser150Ile)	ELOVL3 (S150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275224	NM_152310.3(ELOVL3):c.450C>A (p.Ser150Arg)	ELOVL3 (S150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357427	NM_152310.3(ELOVL3):c.460G>A (p.Val154Met)	ELOVL3 (V154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088473	NM_152310.3(ELOVL3):c.527G>C (p.Gly176Ala)	ELOVL3 (G176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461239	NM_152310.3(ELOVL3):c.547A>G (p.Thr183Ala)	ELOVL3 (T183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294721	NM_152310.3(ELOVL3):c.605T>A (p.Ile202Asn)	ELOVL3 (I202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088474	NM_152310.3(ELOVL3):c.685T>C (p.Cys229Arg)	ELOVL3 (C229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373863	NM_152310.3(ELOVL3):c.721A>G (p.Ile241Val)	ELOVL3 (I241V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088475	NM_152310.3(ELOVL3):c.730A>G (p.Met244Val)	ELOVL3 (M244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236979	NM_152310.3(ELOVL3):c.734C>T (p.Thr245Ile)	ELOVL3 (T245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
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 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
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 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 39