CNBP[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 3268079	NM_003418.5(CNBP):c.461G>C (p.Ser154Thr)	CNBP (S155T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588404	NM_003418.5(CNBP):c.457A>G (p.Thr153Ala)	CNBP (T154A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292669	NM_003418.5(CNBP):c.338A>G (p.His113Arg)	CNBP (H107R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511843	NM_003418.5(CNBP):c.310C>G (p.Pro104Ala)	CNBP (P97A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146401	NM_003418.5(CNBP):c.299A>G (p.Asn100Ser)	CNBP (N94S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044454	NM_003418.5(CNBP):c.231C>T (p.Cys77=)	CNBP	Single nucleotide variant (synonymous variant)	CNBP-related disorder	GLikely benign
Select item 2440154	NM_003418.5(CNBP):c.156C>A (p.Asp52Glu)	CNBP (D45E +1 more)	Single nucleotide variant (missense variant)	Myotonic dystrophy type 2	GUncertain significance
Select item 1217358	NM_003418.5(CNBP):c.156C>T (p.Asp52=)	CNBP	Single nucleotide variant (synonymous variant)	Myotonic dystrophy type 2 +1 more	GBenign
Select item 1319319	NM_003418.5(CNBP):c.61A>G (p.Thr21Ala)	CNBP (T21A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306192	NM_003418.5(CNBP):c.15G>C (p.Glu5Asp)	CNBP (E5D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042006	NM_003418.5(CNBP):c.-14-837_-14-830del	CNBP, LOC108644431	Microsatellite (intron variant)	CNBP-related disorder	GLikely benign
Select item 17564	NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)]	CNBP, LOC108644431	Microsatellite	Myotonic dystrophy type 2	GPathogenic
Select item 3043208	NM_003418.5(CNBP):c.-14-857_-14-838del	CNBP, LOC108644431	Deletion (intron variant)	CNBP-related disorder	GLikely benign
Select item 3033016	NM_003418.5(CNBP):c.-14-853_-14-838del	CNBP, LOC108644431	Deletion (intron variant)	CNBP-related disorder	GLikely benign
Select item 3030761	NM_003418.5(CNBP):c.-14-962GT[18]	CNBP, LOC108644431	Microsatellite (intron variant)	CNBP-related disorder	GLikely benign
Select item 3030076	NM_003418.5(CNBP):c.-14-963A>T	CNBP	Single nucleotide variant (intron variant)	CNBP-related disorder	GLikely benign
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 830616	NC_000003.12:g.(?_129170453)_(129551340_?)dup	CNBP, COPG1 +7 more	Duplication	not provided	GUncertain significance
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 30