PELI2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	LOC130055670, LOC130055671 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 146587	GRCh38/hg38 14q22.3(chr14:56101817-56352516)x3	LINC02284, LOC126861952 +6 more	Copy number gain	See cases	GBenign
Select item 3305754	NM_021255.3(PELI2):c.26A>G (p.His9Arg)	PELI2 (H9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391377	NM_021255.3(PELI2):c.54A>T (p.Lys18Asn)	PELI2 (K18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363872	NM_021255.3(PELI2):c.122G>A (p.Ser41Asn)	PELI2 (S41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303281	NM_021255.3(PELI2):c.152C>G (p.Ala51Gly)	PELI2 (A51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211372	NM_021255.3(PELI2):c.191C>T (p.Thr64Met)	PELI2 (T64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211373	NM_021255.3(PELI2):c.237A>G (p.Ile79Met)	PELI2 (I79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499629	GRCh38/hg38 14q22.3(chr14:56283850-56400818)	LINC02284, PELI2	Copy number loss	See cases	GUncertain significance
Select item 2298506	NM_021255.3(PELI2):c.391A>G (p.Ile131Val)	PELI2 (I131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211374	NM_021255.3(PELI2):c.461G>A (p.Arg154Gln)	PELI2 (R154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488914	NM_021255.3(PELI2):c.463A>G (p.Ile155Val)	PELI2 (I155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376763	NM_021255.3(PELI2):c.537C>G (p.Asp179Glu)	PELI2 (D179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377777	NM_021255.3(PELI2):c.568G>A (p.Val190Ile)	PELI2 (V190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771903	NM_021255.3(PELI2):c.626G>A (p.Arg209His)	PELI2 (R209H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3211376	NM_021255.3(PELI2):c.666A>C (p.Glu222Asp)	PELI2 (E222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305753	NM_021255.3(PELI2):c.676G>T (p.Ala226Ser)	PELI2 (A226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777693	NM_021255.3(PELI2):c.834C>T (p.Asn278=)	PELI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2209441	NM_021255.3(PELI2):c.890A>G (p.Asn297Ser)	PELI2 (N297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211377	NM_021255.3(PELI2):c.891C>G (p.Asn297Lys)	PELI2 (N297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486370	NM_021255.3(PELI2):c.983C>T (p.Thr328Met)	PELI2 (T328M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360076	NM_021255.3(PELI2):c.1027C>G (p.Pro343Ala)	PELI2 (P343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487663	NM_021255.3(PELI2):c.1172A>G (p.His391Arg)	PELI2 (H391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396622	NM_021255.3(PELI2):c.1183G>A (p.Ala395Thr)	PELI2 (A395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338471	GRCh37/hg19 14q22.2-22.3(chr14:54866611-57272174)x1	ATG14, CDKN3 +16 more	Copy number loss	Syndromic microphthalmia type 5	GLikely pathogenic
Select item 3063329	GRCh37/hg19 14q22.3(chr14:56232969-57784632)x3	AP5M1, EXOC5 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527819	GRCh37/hg19 14q22.3(chr14:56226305-57784632)	AP5M1, EXOC5 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980492	GRCh37/hg19 14q22.3(chr14:56473216-56685148)x3	PELI2	Copy number gain	not provided	GUncertain significance
Select item 815660	GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1	ACTR10, AP5M1 +14 more	Copy number loss	not provided	GPathogenic
Select item 815659	GRCh37/hg19 14q22.3(chr14:55615073-58043694)x1	ATG14, FBXO34 +11 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394770	GRCh37/hg19 14q22.3(chr14:56559797-58063452)x1	AP5M1, CCDC198 +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 41