ClinVar for Gene (Select 79993) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275232	NM_024930.3(ELOVL7):c.688G>A (p.Asp230Asn)	ELOVL7 (D143N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275231	NM_024930.3(ELOVL7):c.665T>G (p.Ile222Arg)	ELOVL7 (I222R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275229	NM_024930.3(ELOVL7):c.572C>A (p.Ser191Tyr)	ELOVL7 (S178Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088486	NM_024930.3(ELOVL7):c.827G>A (p.Cys276Tyr)	ELOVL7 (C276Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088485	NM_024930.3(ELOVL7):c.791G>A (p.Gly264Asp)	ELOVL7 (G264D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088484	NM_024930.3(ELOVL7):c.671A>G (p.Gln224Arg)	ELOVL7 (Q137R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088483	NM_024930.3(ELOVL7):c.440A>G (p.His147Arg)	ELOVL7 (H134R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088482	NM_024930.3(ELOVL7):c.317G>A (p.Arg106Gln)	ELOVL7 (R106Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088481	NM_024930.3(ELOVL7):c.142G>T (p.Val48Phe)	ELOVL7 (V48F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088480	NM_024930.3(ELOVL7):c.131A>G (p.Tyr44Cys)	ELOVL7 (Y44C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062834	GRCh37/hg19 5q12.1(chr5:60111731-60809784)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2672303	Single allele	DEPDC1B, ELOVL7 +1 more	Deletion	Cockayne syndrome type 1	GPathogenic
Select item 2655478	NM_024930.3(ELOVL7):c.-85-3412G>A	ELOVL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2511782	NM_024930.3(ELOVL7):c.637G>T (p.Val213Phe)	ELOVL7 (V126F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312036	NM_024930.3(ELOVL7):c.698A>T (p.Tyr233Phe)	ELOVL7 (Y146F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303642	NM_024930.3(ELOVL7):c.303T>G (p.Ile101Met)	ELOVL7 (I14M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288481	NM_024930.3(ELOVL7):c.209C>T (p.Thr70Met)	ELOVL7 (T70M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286428	NM_024930.3(ELOVL7):c.410G>A (p.Arg137His)	ELOVL7 (R124H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283549	NM_024930.3(ELOVL7):c.388G>C (p.Asp130His)	ELOVL7 (D117H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273226	NM_024930.3(ELOVL7):c.271T>C (p.Trp91Arg)	ELOVL7 (W78R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258551	NM_024930.3(ELOVL7):c.542A>C (p.His181Pro)	ELOVL7 (H94P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205056	NM_024930.3(ELOVL7):c.617A>G (p.Tyr206Cys)	ELOVL7 (Y119C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809279	GRCh37/hg19 5q12.1(chr5:60019297-60230718)x1	ELOVL7, ERCC8	Copy number loss	not provided	GUncertain significance
Select item 1807653	GRCh37/hg19 5q12.1(chr5:60040060-60643659)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1706518	GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)x1	ZSWIM6, C5orf64 +12 more	Copy number loss	See cases	GPathogenic
Select item 1527165	GRCh37/hg19 5q12.1(chr5:59929560-61133024)	C5orf64, DEPDC1B +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527164	GRCh37/hg19 5q12.1(chr5:59698068-60053255)	DEPDC1B, ELOVL7 +2 more	Copy number gain	not specified	GUncertain significance
Select item 814688	GRCh37/hg19 5q12.1(chr5:60100026-60227670)x1	ELOVL7, ERCC8	Copy number loss	not provided	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 687723	GRCh37/hg19 5q12.1(chr5:59842939-60331361)x1	DEPDC1B, ELOVL7 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687591	GRCh37/hg19 5q12.1(chr5:60101557-60658345)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687551	GRCh37/hg19 5q12.1(chr5:60133899-60284640)x1	ELOVL7, ERCC8 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687355	GRCh37/hg19 5q12.1(chr5:60101557-60658345)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687246	GRCh37/hg19 5q12.1(chr5:60101557-60809784)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686017	GRCh37/hg19 5q12.1(chr5:60133899-60284640)x1	ELOVL7, ERCC8 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685888	GRCh37/hg19 5q12.1(chr5:60116532-60809784)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563071	GRCh37/hg19 5q12.1(chr5:60018949-60230718)x1	ELOVL7, ERCC8	Copy number loss	not provided	GUncertain significance
Select item 442491	GRCh37/hg19 5q12.1-12.3(chr5:59753805-63274635)x1	DEPDC1B, DIMT1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 152803	GRCh38/hg38 5q12.1(chr5:60724569-60859782)x1	ELOVL7, LOC129993945 +3 more	Copy number loss	See cases	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 144745	GRCh38/hg38 5q12.1(chr5:60609368-60885007)x1	DEPDC1B, ELOVL7 +7 more	Copy number loss	See cases	GUncertain significance
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 144267	GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1	DEPDC1B, DIMT1 +49 more	Copy number loss	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 50