"Ambry Genetics"[submitter] AND "RAD52"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2461211	NM_134424.4(RAD52):c.1252T>C (p.Ser418Pro)	RAD52 (S418P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524172	NM_134424.4(RAD52):c.1108A>C (p.Thr370Pro)	LOC126861412, RAD52 (T293P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312410	NM_134424.4(RAD52):c.1000G>A (p.Val334Met)	LOC126861412, RAD52 (V334M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3151068	NM_134424.4(RAD52):c.1000G>C (p.Val334Leu)	LOC126861412, RAD52 (V334L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3151070	NM_134424.4(RAD52):c.980A>C (p.Asp327Ala)	LOC126861412, RAD52 (D250A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378584	NM_134424.4(RAD52):c.890C>T (p.Thr297Met)	LOC126861412, RAD52 (T297M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263038	NM_134424.4(RAD52):c.864G>C (p.Glu288Asp)	RAD52 (E288D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392921	NM_134424.4(RAD52):c.674C>T (p.Pro225Leu)	RAD52 (P148L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224425	NM_134424.4(RAD52):c.497T>C (p.Ile166Thr)	RAD52 (I166T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151069	NM_134424.4(RAD52):c.447C>T (p.Asp149=)	RAD52	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3312412	NM_134424.4(RAD52):c.433G>A (p.Glu145Lys)	RAD52 (E145K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456188	NM_134424.4(RAD52):c.266C>T (p.Thr89Met)	RAD52 (T12M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance