CCNB1[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 2591489	NM_031966.4(CCNB1):c.17C>G (p.Thr6Ser)	CCNB1 (T6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608088	NM_031966.4(CCNB1):c.40G>C (p.Glu14Gln)	CCNB1 (E14Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331321	NM_031966.4(CCNB1):c.49G>A (p.Ala17Thr)	CCNB1 (A17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209247	NM_031966.4(CCNB1):c.64G>A (p.Ala22Thr)	CCNB1 (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464103	NM_031966.4(CCNB1):c.71C>T (p.Ala24Val)	CCNB1 (A24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402761	NM_031966.4(CCNB1):c.186G>T (p.Met62Ile)	CCNB1 (M62I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553081	NM_031966.4(CCNB1):c.259C>T (p.Pro87Ser)	CCNB1 (P87S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205809	NM_031966.4(CCNB1):c.607G>A (p.Ala203Thr)	CCNB1 (A203T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263826	NM_031966.4(CCNB1):c.690T>G (p.Ile230Met)	CCNB1 (I230M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596855	NM_031966.4(CCNB1):c.994T>A (p.Leu332Met)	CCNB1 (L332M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220608	NM_031966.4(CCNB1):c.1042G>A (p.Ala348Thr)	CCNB1 (A295T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598423	NM_031966.4(CCNB1):c.1163T>C (p.Val388Ala)	CCNB1 (V335A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522816	NM_031966.4(CCNB1):c.1184C>A (p.Thr395Lys)	CCNB1 (T342K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1340095	GRCh37/hg19 5q13.1-13.2(chr5:68203539-68641982)x3	CCDC125, CCNB1 +4 more	Copy number gain	not provided	GLikely benign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 563075	GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1	CD180, RAD17 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 442841	GRCh37/hg19 5q13.1-13.2(chr5:68313021-68847066)x4	CCDC125, CCNB1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, C5orf64 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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

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Items: 28