ELOVL2[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 149264	GRCh38/hg38 6p24.3-24.2(chr6:10542021-11058096)x1	C6orf52, ELOVL2 +23 more	Copy number loss	See cases	GUncertain significance
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 221385	GRCh38/hg38 6p24.2(chr6:10887131-11044230)x1	ELOVL2, ELOVL2-AS1 +4 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2599670	NM_017770.4(ELOVL2):c.871A>G (p.Met291Val)	ELOVL2 (M291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275221	NM_017770.4(ELOVL2):c.869T>C (p.Val290Ala)	ELOVL2 (V290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232449	NM_017770.4(ELOVL2):c.808C>A (p.Pro270Thr)	ELOVL2 (P270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556151	NM_017770.4(ELOVL2):c.784A>T (p.Met262Leu)	ELOVL2 (M262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088469	NM_017770.4(ELOVL2):c.764A>G (p.Gln255Arg)	ELOVL2 (Q255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088468	NM_017770.4(ELOVL2):c.760G>A (p.Val254Ile)	ELOVL2 (V254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088467	NM_017770.4(ELOVL2):c.752A>G (p.Asn251Ser)	ELOVL2 (N251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235365	NM_017770.4(ELOVL2):c.731C>T (p.Thr244Met)	ELOVL2 (T244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323346	NM_017770.4(ELOVL2):c.686G>C (p.Gly229Ala)	ELOVL2 (G229A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088466	NM_017770.4(ELOVL2):c.640G>A (p.Val214Met)	ELOVL2 (V214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088465	NM_017770.4(ELOVL2):c.551A>G (p.Tyr184Cys)	ELOVL2 (Y184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345881	NM_017770.4(ELOVL2):c.424A>G (p.Ile142Val)	ELOVL2 (I142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268788	NM_017770.4(ELOVL2):c.409A>G (p.Lys137Glu)	ELOVL2 (K137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511920	NM_017770.4(ELOVL2):c.406C>T (p.Arg136Trp)	ELOVL2 (R136W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088464	NM_017770.4(ELOVL2):c.403T>G (p.Leu135Val)	ELOVL2 (L135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088462	NM_017770.4(ELOVL2):c.331C>T (p.Arg111Trp)	ELOVL2 (R111W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487456	NM_017770.4(ELOVL2):c.330C>G (p.Ile110Met)	ELOVL2 (I110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275222	NM_017770.4(ELOVL2):c.239C>T (p.Ala80Val)	ELOVL2 (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393501	NM_017770.4(ELOVL2):c.109C>T (p.Pro37Ser)	ELOVL2 (P37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275220	NM_017770.4(ELOVL2):c.106C>T (p.Leu36Phe)	ELOVL2 (L36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389882	NM_017770.4(ELOVL2):c.65G>A (p.Arg22Gln)	ELOVL2 (R22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088463	NM_017770.4(ELOVL2):c.35A>G (p.Asn12Ser)	ELOVL2 (N12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 833506	NC_000006.12:g.(?_10393499)_(11010809_?)dup	GCNT2, MAK +8 more	Duplication	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 51