ClinVar for Gene (Select 55585) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330577	NM_017582.7(UBE2Q1):c.1026G>A (p.Gly342=)	UBE2Q1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	ADAR, AQP10 +20 more	Duplication	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 3185554	NM_017582.7(UBE2Q1):c.803G>T (p.Ser268Ile)	UBE2Q1 (S268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185553	NM_017582.7(UBE2Q1):c.280C>G (p.Arg94Gly)	LOC129931510, UBE2Q1 (R94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185552	NM_017582.7(UBE2Q1):c.1039G>A (p.Gly347Arg)	UBE2Q1 (G347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2568683	NM_017582.7(UBE2Q1):c.266C>T (p.Pro89Leu)	LOC129931510, UBE2Q1 (P89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517840	NM_017582.7(UBE2Q1):c.278C>G (p.Pro93Arg)	LOC129931510, UBE2Q1 (P93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516431	NM_017582.7(UBE2Q1):c.35C>T (p.Pro12Leu)	UBE2Q1 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509203	NM_017582.7(UBE2Q1):c.97G>T (p.Gly33Trp)	UBE2Q1 (G33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468552	NM_017582.7(UBE2Q1):c.278C>A (p.Pro93Gln)	LOC129931510, UBE2Q1 (P93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic
Select item 2378499	NM_017582.7(UBE2Q1):c.284G>A (p.Gly95Glu)	LOC129931510, UBE2Q1 (G95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343341	NM_017582.7(UBE2Q1):c.95G>C (p.Gly32Ala)	UBE2Q1 (G32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327567	NM_017582.7(UBE2Q1):c.949C>T (p.Leu317Phe)	UBE2Q1 (L317F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299073	NM_017582.7(UBE2Q1):c.764G>A (p.Arg255Gln)	UBE2Q1 (R255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296146	NM_017582.7(UBE2Q1):c.253G>T (p.Ala85Ser)	LOC129931510, UBE2Q1 (A85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266943	NM_017582.7(UBE2Q1):c.95G>A (p.Gly32Glu)	UBE2Q1 (G32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1459168	NC_000001.10:g.(?_154422067)_(154580482_?)del	ADAR, CHRNB2 +4 more	Deletion	Symmetrical dyschromatosis of extremities +1 more	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	HCN3, HDGF +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32