UBE2E2[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 57768	GRCh38/hg38 3p24.3-24.2(chr3:20054451-23858736)x1	KAT2B, LOC101927829 +77 more	Copy number loss	See cases	GPathogenic
Select item 2265837	NM_152653.4(UBE2E2):c.35C>A (p.Pro12Gln)	UBE2E2 (P12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185516	NM_152653.4(UBE2E2):c.37A>G (p.Ser13Gly)	UBE2E2 (S13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185517	NM_152653.4(UBE2E2):c.91C>T (p.Pro31Ser)	UBE2E2 (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327802	NM_152653.4(UBE2E2):c.104A>C (p.Gln35Pro)	UBE2E2 (Q35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266538	NM_152653.4(UBE2E2):c.136T>C (p.Ser46Pro)	UBE2E2 (S46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147469	GRCh38/hg38 3p24.3-24.2(chr3:23404410-24270481)x3	LINC00691, LOC121725135 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2614397	NM_152653.4(UBE2E2):c.304G>C (p.Gly102Arg)	UBE2E2 (G102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685073	GRCh37/hg19 3p24.3(chr3:23278691-23623732)x1	UBE2E2	Copy number loss	not provided	GUncertain significance
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 814426	GRCh37/hg19 3p24.3(chr3:23369930-23719801)x3	UBE2E2	Copy number gain	not provided	GLikely benign
Select item 687662	GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1	EFHB, KAT2B +15 more	Copy number loss	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 28