UBE2C[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2527319	NM_007019.4(UBE2C):c.118A>G (p.Met40Val)	UBE2C (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517805	NM_007019.4(UBE2C):c.259A>G (p.Ser87Gly)	UBE2C (S87G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185510	NM_007019.4(UBE2C):c.317A>T (p.Asn106Ile)	UBE2C (N77I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468652	NM_007019.4(UBE2C):c.479C>T (p.Thr160Ile)	UBE2C (T160I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391979	NM_007019.4(UBE2C):c.534G>T (p.Glu178Asp)	UBE2C (E131D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic