UBE2L6[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance
Select item 3185531	NM_004223.5(UBE2L6):c.364C>T (p.Arg122Trp)	UBE2L6 (R122W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185530	NM_004223.5(UBE2L6):c.326A>G (p.Asn109Ser)	UBE2L6 (N43S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386188	NM_004223.5(UBE2L6):c.325A>C (p.Asn109His)	UBE2L6 (N109H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292977	NM_004223.5(UBE2L6):c.300G>T (p.Lys100Asn)	UBE2L6 (K34N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601786	NM_004223.5(UBE2L6):c.241G>A (p.Glu81Lys)	UBE2L6 (E81K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249727	NM_004223.5(UBE2L6):c.240C>A (p.Asp80Glu)	UBE2L6 (D80E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378107	NM_004223.5(UBE2L6):c.235G>A (p.Val79Met)	UBE2L6 (V79M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407248	NM_004223.5(UBE2L6):c.153C>A (p.Phe51Leu)	UBE2L6 (F51L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301520	NM_004223.5(UBE2L6):c.108C>A (p.His36Gln)	UBE2L6 (H36Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185532	NM_004223.5(UBE2L6):c.92A>G (p.Asn31Ser)	UBE2L6 (N31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239380	NM_004223.5(UBE2L6):c.26A>C (p.Lys9Thr)	UBE2L6 (K9T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1808253	GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3	APLNR, LRRC55 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341252	GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3	CLP1, MIR130A +14 more	Copy number gain	not provided	GUncertain significance
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 1076333	NC_000011.9:g.(?_57235082)_(57467503_?)del	MIR130A, RTN4RL2 +8 more	Deletion	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 27