"GeneDx"[submitter] AND "XRCC4"[gene] - ClinVar

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

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 208515	NM_003401.5(XRCC4):c.25del (p.His9fs)	XRCC4 (H9fs)	Deletion (frameshift variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GPathogenic/Likely pathogenic
Select item 127246	NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)	XRCC4 (W43R)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GPathogenic/Likely pathogenic
Select item 1307675	NM_003401.5(XRCC4):c.166G>A (p.Ala56Thr)	XRCC4 (A56T)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GUncertain significance
Select item 1244004	NM_003401.5(XRCC4):c.315+41G>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221474	NM_003401.5(XRCC4):c.315+76G>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253242	NM_003401.5(XRCC4):c.315+83A>G	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261962	NM_003401.5(XRCC4):c.315+93C>T	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300523	NM_003401.5(XRCC4):c.401T>C (p.Ile134Thr)	XRCC4 (I134T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 711928	NM_003401.5(XRCC4):c.411T>G (p.Asn137Lys)	XRCC4 (N137K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1230719	NM_003401.5(XRCC4):c.483-64G>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1806704	NM_003401.5(XRCC4):c.535C>T (p.Arg179Trp)	XRCC4 (R179W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300521	NM_003401.5(XRCC4):c.638+187G>T	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 208518	NM_003401.5(XRCC4):c.673C>T (p.Arg225Ter)	XRCC4 (R225*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1260275	NM_003401.5(XRCC4):c.739G>T (p.Ala247Ser)	XRCC4 (A247S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1263803	NM_003401.5(XRCC4):c.746-211G>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280500	NM_003401.5(XRCC4):c.894-122T>C	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300869	NM_003401.5(XRCC4):c.894-67A>G	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237727	NM_003401.5(XRCC4):c.894-7G>A	XRCC4	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GBenign
Select item 1245076	NM_003401.5(XRCC4):c.921T>G (p.Ser307=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20