CETN3[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 3235905	GRCh38/hg38 5q14.3(chr5:86235182-91734581)	ADGRV1, ARRDC3 +119 more	Copy number loss	5q14.3 microdeletion	GPathogenic
Select item 59630	GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1	ADGRV1, ARRDC3 +117 more	Copy number loss	See cases	GPathogenic
Select item 152918	GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1	ADGRV1, ARRDC3 +116 more	Copy number loss	See cases	GPathogenic
Select item 58097	GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3	ADGRV1, ARRDC3 +120 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 2579178	GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1	ADGRV1, ARB2A +116 more	Copy number loss	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 147564	GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3	LOC110120688, LOC110120744 +99 more	Copy number gain	See cases	GPathogenic
Select item 152422	GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1	LOC110120744, LOC110120771 +86 more	Copy number loss	See cases	GPathogenic
Select item 59633	GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1	ADGRV1, ARB2A +96 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 150737	GRCh38/hg38 5q14.3(chr5:89913177-90559619)x1	ADGRV1, CETN3 +21 more	Copy number loss	See cases	GUncertain significance
Select item 153573	GRCh38/hg38 5q14.3(chr5:90157702-90471235)x1	CETN3, LINC01339 +6 more	Copy number loss	See cases	GLikely benign
Select item 57299	GRCh38/hg38 5q14.3(chr5:90228146-91116592)x1	ADGRV1, CETN3 +27 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 2249382	NM_004365.4(CETN3):c.434A>G (p.Glu145Gly)	CETN3 (E145G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522742	NM_004365.4(CETN3):c.400A>T (p.Met134Leu)	CETN3 (M134L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359010	NM_004365.4(CETN3):c.332A>G (p.Asp111Gly)	CETN3 (D111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245492	NM_004365.4(CETN3):c.322A>C (p.Lys108Gln)	CETN3 (K108Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485742	NM_004365.4(CETN3):c.229G>C (p.Ala77Pro)	CETN3 (A77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213246	NM_004365.4(CETN3):c.226G>A (p.Glu76Lys)	CETN3 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459816	NM_004365.4(CETN3):c.196G>A (p.Val66Ile)	CETN3 (V66I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493809	NM_004365.4(CETN3):c.171G>C (p.Leu57Phe)	CETN3 (L57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707717	NC_000005.9:g.(?_88625195)_(90796047_?)inv	LYSMD3, MBLAC2 +6 more	Inversion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 1527175	GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454)	ADGRV1, CCNH +15 more	Copy number loss	not specified	GPathogenic
Select item 832631	NC_000005.10:g.(?_90394064)_(90811338_?)dup	ADGRV1, CETN3 +3 more	Duplication	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814708	GRCh37/hg19 5q14.3(chr5:87611415-89975436)x3	MBLAC2, CETN3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563087	GRCh37/hg19 5q14.3-15(chr5:87399001-92675748)x3	ADGRV1, MIR9-2 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
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 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 441749	GRCh37/hg19 5q14.3(chr5:87764485-90147447)x1	ADGRV1, CETN3 +5 more	Copy number loss	See cases	GPathogenic

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Items: 37