UBE2Z[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	See cases	GPathogenic
Select item 3185582	NM_023079.5(UBE2Z):c.76G>T (p.Gly26Cys)	LOC105371814, LOC130061100 +1 more (G26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295988	NM_023079.5(UBE2Z):c.80T>G (p.Val27Gly)	LOC105371814, LOC130061100 +1 more (V27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248331	NM_023079.5(UBE2Z):c.94G>A (p.Gly32Ser)	LOC105371814, LOC130061100 +1 more (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222701	NM_023079.5(UBE2Z):c.143C>T (p.Ala48Val)	LOC105371814, LOC130061100 +1 more (A48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185580	NM_023079.5(UBE2Z):c.164C>T (p.Ala55Val)	LOC105371814, LOC130061100 +1 more (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330591	NM_023079.5(UBE2Z):c.167G>C (p.Gly56Ala)	LOC105371814, LOC130061100 +1 more (G56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539770	NM_023079.5(UBE2Z):c.170G>C (p.Gly57Ala)	LOC105371814, LOC130061100 +1 more (G57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614338	NM_023079.5(UBE2Z):c.245A>G (p.His82Arg)	LOC105371814, LOC130061100 +1 more (H82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185581	NM_023079.5(UBE2Z):c.376G>A (p.Val126Ile)	UBE2Z (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539534	NM_023079.5(UBE2Z):c.394C>G (p.His132Asp)	UBE2Z (H132D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330590	NM_023079.5(UBE2Z):c.451G>C (p.Val151Leu)	UBE2Z (V151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276117	NM_023079.5(UBE2Z):c.538A>G (p.Asn180Asp)	UBE2Z (N180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229198	NM_023079.5(UBE2Z):c.793G>A (p.Glu265Lys)	UBE2Z (E265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242560	NM_023079.5(UBE2Z):c.866G>A (p.Arg289His)	UBE2Z (R289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319961	NM_023079.5(UBE2Z):c.892C>A (p.Gln298Lys)	UBE2Z (Q298K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 1807609	GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3	ABI3, ATP5MC1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688814	GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)x3	ABI3, ATP5MC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 688217	GRCh37/hg19 17q21.32(chr17:46874271-47158974)x3	ATP5MC1, CALCOCO2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 30