ClinVar for Gene (Select 8697) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264943	NM_004661.4(CDC23):c.1745C>T (p.Thr582Ile)	CDC23 (T582I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264942	NM_004661.4(CDC23):c.187C>T (p.Pro63Ser)	CDC23 (P63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264941	NM_004661.4(CDC23):c.19A>G (p.Met7Val)	CDC23 (M7V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140800	NM_004661.4(CDC23):c.693G>T (p.Glu231Asp)	CDC23 (E231D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140799	NM_004661.4(CDC23):c.67A>T (p.Asn23Tyr)	CDC23 (N23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140798	NM_004661.4(CDC23):c.499C>T (p.Leu167Phe)	CDC23 (L167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140795	NM_004661.4(CDC23):c.1508T>C (p.Ile503Thr)	CDC23 (I503T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062839	GRCh37/hg19 5q31.2(chr5:137364109-137524867)x1	BRD8, CDC23 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2538282	NM_004661.4(CDC23):c.343T>A (p.Tyr115Asn)	CDC23 (Y115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528832	NM_004661.4(CDC23):c.1690A>G (p.Thr564Ala)	CDC23 (T564A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486384	NM_004661.4(CDC23):c.322G>A (p.Gly108Ser)	CDC23 (G108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483552	NM_004661.4(CDC23):c.1270C>T (p.Arg424Trp)	CDC23 (R424W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2377647	NM_004661.4(CDC23):c.1742A>G (p.Asn581Ser)	CDC23 (N581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347074	NM_004661.4(CDC23):c.286G>A (p.Val96Ile)	CDC23 (V96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280903	NM_004661.4(CDC23):c.21G>T (p.Met7Ile)	CDC23 (M7I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265526	NM_004661.4(CDC23):c.1595G>T (p.Cys532Phe)	CDC23 (C532F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	IGIP, IK +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 783396	NM_004661.4(CDC23):c.1623T>C (p.Asp541=)	CDC23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770357	NM_004661.4(CDC23):c.1286+10G>A	CDC23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37