"PreventionGenetics, part of Exact Sciences"[submitter] AND "UBR3"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054969	NM_172070.4(UBR3):c.255G>A (p.Ala85=)	LOC129935076, UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 2632790	NM_172070.4(UBR3):c.407G>A (p.Cys136Tyr)	UBR3 (C136Y)	Single nucleotide variant (missense variant)	UBR3-related disorder	GUncertain significance
Select item 3033312	NM_172070.4(UBR3):c.423C>T (p.Cys141=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3034181	NM_172070.4(UBR3):c.545+10G>A	UBR3	Single nucleotide variant (intron variant)	UBR3-related disorder	GLikely benign
Select item 2632750	NM_172070.4(UBR3):c.613_614del (p.Met205fs)	UBR3 (M205fs)	Deletion (frameshift variant)	UBR3-related disorder	GUncertain significance
Select item 3057486	NM_172070.4(UBR3):c.640A>G (p.Ile214Val)	UBR3 (I214V)	Single nucleotide variant (missense variant)	UBR3-related disorder	GLikely benign
Select item 3051399	NM_172070.4(UBR3):c.1353C>T (p.Phe451=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3042682	NM_172070.4(UBR3):c.1530C>T (p.Tyr510=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3060992	NM_172070.4(UBR3):c.1671A>T (p.Leu557=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GBenign
Select item 3057181	NM_172070.4(UBR3):c.1996C>T (p.Leu666=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GBenign
Select item 3042299	NM_172070.4(UBR3):c.2151+4_2151+5insAT	UBR3	Insertion (intron variant)	UBR3-related disorder	GLikely benign
Select item 3042698	NM_172070.4(UBR3):c.2655T>C (p.Tyr885=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GBenign
Select item 3047164	NM_172070.4(UBR3):c.3067A>G (p.Asn1023Asp)	UBR3 (N1023D)	Single nucleotide variant (missense variant)	UBR3-related disorder	GLikely benign
Select item 3049374	NM_172070.4(UBR3):c.3451C>T (p.Arg1151Cys)	UBR3 (R1151C)	Single nucleotide variant (missense variant)	UBR3-related disorder	GLikely benign
Select item 3045254	NM_172070.4(UBR3):c.3702T>C (p.Tyr1234=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3058824	NM_172070.4(UBR3):c.4704C>T (p.Tyr1568=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3060985	NM_172070.4(UBR3):c.4845A>G (p.Leu1615=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GBenign
Select item 3048937	NM_172070.4(UBR3):c.4893+4T>A	UBR3	Single nucleotide variant (intron variant)	UBR3-related disorder	GLikely benign
Select item 3056001	NM_172070.4(UBR3):c.4923C>G (p.Ser1641=)	UBR3	Single nucleotide variant (synonymous variant)	UBR3-related disorder	GLikely benign
Select item 3048990	NM_172070.4(UBR3):c.5410-3dup	UBR3	Duplication (intron variant)	UBR3-related disorder	GLikely benign

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Items: 20