ClinVar for Gene (Select 8453) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270310	NM_003591.4(CUL2):c.512G>A (p.Arg171His)	CUL2 (R184H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270309	NM_003591.4(CUL2):c.594C>G (p.Phe198Leu)	CUL2 (F135L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078951	NM_003591.4(CUL2):c.913T>A (p.Ser305Thr)	CUL2 (S174T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078950	NM_003591.4(CUL2):c.619T>G (p.Phe207Val)	CUL2 (F144V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078949	NM_003591.4(CUL2):c.2210C>T (p.Ser737Leu)	CUL2 (S674L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078948	NM_003591.4(CUL2):c.56C>T (p.Thr19Met)	CUL2 (T19M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024212	GRCh38/hg38 10p11.21(chr10:34891282-35211554)	CREM, CUL2 +13 more	Copy number gain	Autism spectrum disorder	GLikely benign
Select item 2685372	GRCh37/hg19 10p11.22-11.21(chr10:32617120-36913676)x1	CCDC7, CCNY +8 more	Copy number loss	not provided	GUncertain significance
Select item 2640405	NC_000010.11:g.35100968A>G	CUL2	Single nucleotide variant	not provided	GLikely benign
Select item 2617668	NM_003591.4(CUL2):c.515G>T (p.Gly172Val)	CUL2 (G185V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613425	NM_003591.4(CUL2):c.986A>G (p.Asn329Ser)	CUL2 (N266S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608402	NM_003591.4(CUL2):c.2231T>C (p.Val744Ala)	CUL2 (V763A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2551031	NM_003591.4(CUL2):c.1322A>G (p.Lys441Arg)	CUL2 (K441R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549704	NM_003591.4(CUL2):c.959A>G (p.His320Arg)	CUL2 (H333R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540291	NM_003591.4(CUL2):c.628C>T (p.Pro210Ser)	CUL2 (P147S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540290	NM_003591.4(CUL2):c.2011G>T (p.Ala671Ser)	CUL2 (A690S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540153	NM_003591.4(CUL2):c.634C>A (p.Leu212Met)	CUL2 (L212M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531807	NM_003591.4(CUL2):c.752G>A (p.Arg251Gln)	CUL2 (R120Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489524	NM_003591.4(CUL2):c.211C>T (p.His71Tyr)	CUL2 (H71Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458941	NM_003591.4(CUL2):c.208C>T (p.Arg70Trp)	CUL2 (R70W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404139	NM_003591.4(CUL2):c.1208C>T (p.Ala403Val)	CUL2 (A272V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401364	NM_003591.4(CUL2):c.1565C>T (p.Ala522Val)	CUL2 (A459V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304144	NM_003591.4(CUL2):c.949A>G (p.Asn317Asp)	CUL2 (N336D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294223	NM_003591.4(CUL2):c.-2C>A	CUL2 (T19K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2288553	NM_003591.4(CUL2):c.2216A>G (p.Asp739Gly)	CUL2 (D752G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283483	NM_003591.4(CUL2):c.2122A>G (p.Arg708Gly)	CUL2 (R727G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276564	NM_003591.4(CUL2):c.1794G>T (p.Glu598Asp)	CUL2 (E617D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273917	NM_003591.4(CUL2):c.1832C>T (p.Thr611Ile)	CUL2 (T630I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263726	NM_003591.4(CUL2):c.860G>A (p.Arg287Gln)	CUL2 (R224Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243251	NM_003591.4(CUL2):c.482G>A (p.Arg161Gln)	CUL2 (R30Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 982195	NM_003591.4(CUL2):c.2192T>C (p.Ile731Thr)	CUL2 (I600T +4 more)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 815336	GRCh37/hg19 10p11.21(chr10:35176152-35507068)x3	CUL2, CREM	Copy number gain	not provided	GLikely benign
Select item 776506	NM_003591.4(CUL2):c.444G>A (p.Arg148=)	CUL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731451	NM_003591.4(CUL2):c.1578G>A (p.Thr526=)	CUL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712043	NM_003591.4(CUL2):c.222+4A>G	CUL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708941	NM_003591.4(CUL2):c.506+7G>C	CUL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684910	GRCh37/hg19 10p11.21(chr10:35306857-35507200)x3	CREM, CUL2	Copy number gain	not provided	GUncertain significance
Select item 684909	GRCh37/hg19 10p11.21(chr10:34795319-36729226)x1	CREM, CUL2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 563752	GRCh37/hg19 10p11.21(chr10:35021066-35594219)x3	CREM, CUL2 +2 more	Copy number gain	not provided	GLikely benign
Select item 560084	Single allele	CCNY, CCNY-AS1 +65 more	Deletion	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442629	GRCh37/hg19 10p11.21(chr10:35052688-35724594)x3	CCNY, CREM +2 more	Copy number gain	See cases	GLikely benign
Select item 442070	GRCh37/hg19 10p11.21(chr10:34613818-36003507)x3	CCNY, CREM +4 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 394992	GRCh37/hg19 10p11.21(chr10:35302536-35473281)x3	CREM, CUL2	Copy number gain	See cases	GLikely benign
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 221475	GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3	CREM, CUL2 +10 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 153912	GRCh38/hg38 10p11.21(chr10:34460387-35130934)x3	CREM, CUL2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 148099	GRCh38/hg38 10p11.21(chr10:34894473-35184412)x1	CREM, CUL2 +13 more	Copy number loss	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 59701	GRCh38/hg38 10p11.21(chr10:34686264-35684215)x3	FZD8, CCNY +48 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56