ClinVar for Gene (Select 891) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264524	NM_031966.4(CCNB1):c.527C>T (p.Ala176Val)	CCNB1 (A176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264523	NM_031966.4(CCNB1):c.319C>G (p.Pro107Ala)	CCNB1 (P107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264522	NM_031966.4(CCNB1):c.167T>C (p.Leu56Pro)	CCNB1 (L56P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264521	NM_031966.4(CCNB1):c.1270C>A (p.Gln424Lys)	CCNB1 (Q424K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 3139866	NM_031966.4(CCNB1):c.989C>T (p.Thr330Ile)	CCNB1 (T277I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139864	NM_031966.4(CCNB1):c.1198G>A (p.Val400Ile)	CCNB1 (V400I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139863	NM_031966.4(CCNB1):c.110C>T (p.Pro37Leu)	CCNB1 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608088	NM_031966.4(CCNB1):c.40G>C (p.Glu14Gln)	CCNB1 (E14Q)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2596855	NM_031966.4(CCNB1):c.994T>A (p.Leu332Met)	CCNB1 (L332M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591489	NM_031966.4(CCNB1):c.17C>G (p.Thr6Ser)	CCNB1 (T6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553081	NM_031966.4(CCNB1):c.259C>T (p.Pro87Ser)	CCNB1 (P87S)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2464103	NM_031966.4(CCNB1):c.71C>T (p.Ala24Val)	CCNB1 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402761	NM_031966.4(CCNB1):c.186G>T (p.Met62Ile)	CCNB1 (M62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331321	NM_031966.4(CCNB1):c.49G>A (p.Ala17Thr)	CCNB1 (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263826	NM_031966.4(CCNB1):c.690T>G (p.Ile230Met)	CCNB1 (I230M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220608	NM_031966.4(CCNB1):c.1042G>A (p.Ala348Thr)	CCNB1 (A295T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209247	NM_031966.4(CCNB1):c.64G>A (p.Ala22Thr)	CCNB1 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205809	NM_031966.4(CCNB1):c.607G>A (p.Ala203Thr)	CCNB1 (A203T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
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	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
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 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 36