995[Gene ID] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	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
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 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
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 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 2316416	NM_001790.5(CDC25C):c.1397T>C (p.Leu466Pro)	CDC25C (L466P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140817	NM_001790.5(CDC25C):c.1381C>T (p.Arg461Trp)	CDC25C (R418W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475748	NM_001790.5(CDC25C):c.1351A>G (p.Ser451Gly)	CDC25C (S468G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319970	NM_001790.5(CDC25C):c.1322A>G (p.Lys441Arg)	CDC25C (K368R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596648	NM_001790.5(CDC25C):c.1303A>G (p.Met435Val)	CDC25C (M362V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350001	NM_001790.5(CDC25C):c.1261C>A (p.Pro421Thr)	CDC25C (P378T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397091	NM_001790.5(CDC25C):c.1241G>A (p.Gly414Asp)	CDC25C (G380D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140816	NM_001790.5(CDC25C):c.1196A>G (p.Asn399Ser)	CDC25C (N365S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218207	NM_001790.5(CDC25C):c.1183G>A (p.Asp395Asn)	CDC25C (D352N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277558	NM_001790.5(CDC25C):c.1175G>A (p.Arg392His)	CDC25C (R358H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599428	NM_001790.5(CDC25C):c.1145A>G (p.Glu382Gly)	CDC25C (E382G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232025	NM_001790.5(CDC25C):c.1087G>A (p.Val363Ile)	CDC25C (V363I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293334	NM_001790.5(CDC25C):c.974T>G (p.Phe325Cys)	CDC25C (F282C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264957	NM_001790.5(CDC25C):c.908A>C (p.Lys303Thr)	CDC25C (K269T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243988	NM_001790.5(CDC25C):c.883G>A (p.Val295Met)	CDC25C (V252M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 755565	NM_001790.5(CDC25C):c.882C>T (p.Thr294=)	CDC25C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2521176	NM_001790.5(CDC25C):c.872C>T (p.Ala291Val)	CDC25C (A248V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140822	NM_001790.5(CDC25C):c.734A>G (p.Tyr245Cys)	CDC25C (Y245C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292869	NM_001790.5(CDC25C):c.698A>G (p.Lys233Arg)	CDC25C (K233R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140821	NM_001790.5(CDC25C):c.644C>T (p.Pro215Leu)	CDC25C (P172L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309306	NM_001790.5(CDC25C):c.641C>T (p.Ser214Phe)	CDC25C (S171F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259241	NM_001790.5(CDC25C):c.623G>A (p.Arg208Lys)	CDC25C (R135K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243081	NM_001790.5(CDC25C):c.602A>C (p.Asp201Ala)	CDC25C (D158A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140820	NM_001790.5(CDC25C):c.557A>C (p.Gln186Pro)	CDC25C (Q113P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595053	NM_001790.5(CDC25C):c.407G>A (p.Arg136His)	CDC25C (R153H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2371082	NM_001790.5(CDC25C):c.346C>G (p.Gln116Glu)	CDC25C (Q194E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213882	NM_001790.5(CDC25C):c.224C>G (p.Ser75Trp)	CDC25C (S92W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140818	NM_001790.5(CDC25C):c.182G>A (p.Ser61Asn)	CDC25C (S78N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510992	NM_001790.5(CDC25C):c.100G>C (p.Glu34Gln)	CDC25C (E112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321426	NM_001790.5(CDC25C):c.77G>T (p.Arg26Met)	CDC25C (R43M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140819	NM_001790.5(CDC25C):c.25A>G (p.Thr9Ala)	CDC25C (T26A +2 more)	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 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 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

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Items: 50