1580[HGNC] - ClinVar

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Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 3264525	NM_004701.4(CCNB2):c.53C>T (p.Thr18Ile)	CCNB2 (T18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139870	NM_004701.4(CCNB2):c.170A>T (p.Lys57Ile)	CCNB2 (K57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617346	NM_004701.4(CCNB2):c.207C>G (p.Asn69Lys)	CCNB2 (N69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322386	NM_004701.4(CCNB2):c.239C>T (p.Pro80Leu)	CCNB2 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777248	NM_004701.4(CCNB2):c.267G>A (p.Lys89=)	CCNB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750783	NM_004701.4(CCNB2):c.285T>G (p.Pro95=)	CCNB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711953	NM_004701.4(CCNB2):c.299T>C (p.Met100Thr)	CCNB2 (M100T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377737	NM_004701.4(CCNB2):c.416A>G (p.Tyr139Cys)	CCNB2 (Y139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528621	NM_004701.4(CCNB2):c.461A>G (p.His154Arg)	CCNB2 (H154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374405	NM_004701.4(CCNB2):c.481A>G (p.Ile161Val)	CCNB2 (I161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362204	NM_004701.4(CCNB2):c.490C>T (p.Arg164Cys)	CCNB2 (R164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264526	NM_004701.4(CCNB2):c.491G>A (p.Arg164His)	CCNB2 (R164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480229	NM_004701.4(CCNB2):c.495G>A (p.Met165Ile)	CCNB2 (M165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402517	NM_004701.4(CCNB2):c.509T>C (p.Val170Ala)	CCNB2 (V170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139871	NM_004701.4(CCNB2):c.552G>C (p.Gln184His)	CCNB2 (Q184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410800	NM_004701.4(CCNB2):c.587G>A (p.Arg196Gln)	CCNB2 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283537	NM_004701.4(CCNB2):c.604C>A (p.Pro202Thr)	CCNB2 (P202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139872	NM_004701.4(CCNB2):c.613C>T (p.Arg205Trp)	CCNB2 (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259795	NM_004701.4(CCNB2):c.654G>C (p.Leu218Phe)	CCNB2 (L218F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331960	NM_004701.4(CCNB2):c.695A>C (p.Asp232Ala)	CCNB2 (D232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508884	NM_004701.4(CCNB2):c.745A>G (p.Met249Val)	CCNB2 (M249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264527	NM_004701.4(CCNB2):c.779A>C (p.Glu260Ala)	CCNB2 (E260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645382	NM_004701.4(CCNB2):c.822A>G (p.Ser274=)	CCNB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2216482	NM_004701.4(CCNB2):c.876G>C (p.Glu292Asp)	CCNB2 (E292D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139873	NM_004701.4(CCNB2):c.888C>T (p.Ile296=)	CCNB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2386804	NM_004701.4(CCNB2):c.971A>G (p.Lys324Arg)	CCNB2 (K324R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491020	NM_004701.4(CCNB2):c.1035G>C (p.Gln345His)	CCNB2 (Q345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139867	NM_004701.4(CCNB2):c.1048A>G (p.Asn350Asp)	CCNB2 (N350D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210366	NM_004701.4(CCNB2):c.1159G>A (p.Val387Ile)	CCNB2 (V387I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781291	NM_004701.4(CCNB2):c.1184T>C (p.Ile395Thr)	CCNB2 (I395T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526464	GRCh37/hg19 15q22.2(chr15:59384216-59530214)	CCNB2, LDHAL6B +2 more	Copy number loss	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564210	GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3	ADAM10, AQP9 +11 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic

ClinVar

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Items: 47