UBE2L6[gene] - ClinVar

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

Search results

Items: 30

	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 3330561	NM_004223.5(UBE2L6):c.344C>T (p.Pro115Leu)	UBE2L6 (P115L +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 3330562	NM_004223.5(UBE2L6):c.94G>A (p.Val32Ile)	UBE2L6 (V32I)	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 3338459	GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3	APLNR, BTBD18 +20 more	Copy number gain	Pontocerebellar hypoplasia type 10	GLikely pathogenic
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	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 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	CLP1, MIR130A +8 more	Deletion	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +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)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	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

Search results

Items: 30