"PreventionGenetics, part of Exact Sciences"[submitter] AND "UBA7"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055060	NM_003335.3(UBA7):c.2910-9C>T	UBA7	Single nucleotide variant (intron variant)	UBA7-related condition	GLikely benign
Select item 3051003	NM_003335.3(UBA7):c.2516G>C (p.Arg839Pro)	UBA7 (R839P)	Single nucleotide variant (missense variant)	UBA7-related condition	GBenign
Select item 3057477	NM_003335.3(UBA7):c.1536C>T (p.Leu512=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related condition	GLikely benign
Select item 3042162	NM_003335.3(UBA7):c.1525G>A (p.Val509Met)	UBA7 (V509M)	Single nucleotide variant (missense variant)	UBA7-related condition	GLikely benign
Select item 3055621	NM_003335.3(UBA7):c.1314G>A (p.Val438=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related condition	GLikely benign
Select item 2635261	NM_003335.3(UBA7):c.1297C>T (p.Gln433Ter)	UBA7 (Q433*)	Single nucleotide variant (nonsense)	UBA7-related condition	GUncertain significance
Select item 3038287	NM_003335.3(UBA7):c.1241G>A (p.Arg414His)	UBA7 (R414H)	Single nucleotide variant (missense variant)	UBA7-related condition	GLikely benign
Select item 3057290	NM_003335.3(UBA7):c.1173C>T (p.Ala391=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related condition	GLikely benign
Select item 2521944	NM_003335.3(UBA7):c.688G>A (p.Val230Met)	UBA7 (V230M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3033798	NM_003335.3(UBA7):c.453C>A (p.Thr151=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related condition	GLikely benign
Select item 3057949	NM_003335.3(UBA7):c.264C>T (p.Ala88=)	UBA7	Single nucleotide variant (synonymous variant)	UBA7-related condition	GBenign