UBE2M[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 145872	GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1	LOC130065239, LOC130065240 +41 more	Copy number loss	See cases	GLikely benign
Select item 144244	GRCh38/hg38 19q13.43(chr19:58548841-58581203)x3	CHMP2A, LOC130065240 +12 more	Copy number gain	See cases	GBenign
Select item 2512439	NM_003969.4(UBE2M):c.495G>T (p.Gln165His)	UBE2M (Q165H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277650	NM_003969.4(UBE2M):c.236G>C (p.Ser79Thr)	UBE2M (S79T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic