ClinVar for MedGen (Select 895448) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661910	NM_003401.5(XRCC4):c.140-13A>G	XRCC4	Single nucleotide variant (intron variant)	Short stature, microcephaly, and endocrine dysfunction	GUncertain significance
Select item 2582370	NM_003401.5(XRCC4):c.140-2A>G	XRCC4	Single nucleotide variant (splice acceptor variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GLikely pathogenic
Select item 1632607	NM_003401.5(XRCC4):c.483-15T>G	XRCC4	Single nucleotide variant (intron variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GLikely benign
Select item 1631696	NM_003401.5(XRCC4):c.140-15T>C	XRCC4	Single nucleotide variant (intron variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GLikely benign
Select item 1589305	NM_003401.5(XRCC4):c.894-13T>G	XRCC4	Single nucleotide variant (intron variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GLikely benign
Select item 1507399	NM_003401.5(XRCC4):c.943G>A (p.Glu315Lys)	XRCC4 (E317K +1 more)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction +2 more	GUncertain significance
Select item 1467030	NM_003401.5(XRCC4):c.80C>T (p.Thr27Ile)	XRCC4 (T27I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1449070	NM_003401.5(XRCC4):c.458G>A (p.Arg153Lys)	XRCC4 (R153K)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GUncertain significance
Select item 1369842	NM_003401.5(XRCC4):c.970A>C (p.Asn324His)	XRCC4 (N324H +1 more)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GUncertain significance
Select item 1329084	NM_003401.5(XRCC4):c.127T>A (p.Trp43Arg)	XRCC4 (W43R)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 1307675	NM_003401.5(XRCC4):c.166G>A (p.Ala56Thr)	XRCC4 (A56T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1245076	NM_003401.5(XRCC4):c.921T>G (p.Ser307=)	XRCC4	Single nucleotide variant (synonymous variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GBenign
Select item 1179135	NM_003401.5(XRCC4):c.265del (p.Ser89fs)	XRCC4 (S89fs)	Deletion (frameshift variant)	Short stature, microcephaly, and endocrine dysfunction	GLikely pathogenic
Select item 732343	NM_003401.5(XRCC4):c.140-4A>G	XRCC4	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 723092	NM_003401.5(XRCC4):c.139+7C>T	XRCC4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 716635	NM_003401.5(XRCC4):c.224T>C (p.Leu75Ser)	XRCC4 (L75S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 690382	NM_003401.5(XRCC4):c.356C>T (p.Pro119Leu)	XRCC4 (P119L)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction	GUncertain significance
Select item 690381	NM_003401.5(XRCC4):c.640G>A (p.Glu214Lys)	XRCC4 (E214K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 667362	NM_003401.5(XRCC4):c.628A>T (p.Lys210Ter)	XRCC4 (K210*)	Single nucleotide variant (nonsense)	Short stature, microcephaly, and endocrine dysfunction	GLikely pathogenic
Select item 208522	NM_003401.5(XRCC4):c.760del (p.Asp254fs)	XRCC4 (D254fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 208521	NM_003401.5(XRCC4):c.482G>A (p.Arg161Gln)	XRCC4 (R161Q)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 208520	NM_003401.5(XRCC4):c.246T>G (p.Asp82Glu)	XRCC4 (D82E)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 208519	NM_003401.5(XRCC4):c.481C>T (p.Arg161Ter)	XRCC4 (R161*)	Single nucleotide variant (nonsense)	XRCC4-related condition +1 more	GPathogenic/Likely pathogenic
Select item 208518	NM_003401.5(XRCC4):c.673C>T (p.Arg225Ter)	XRCC4 (R225*)	Single nucleotide variant (nonsense)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 208517	NM_003401.5(XRCC4):c.-10-1G>T	XRCC4	Single nucleotide variant (splice acceptor variant)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 208516	NM_003401.5(XRCC4):c.823C>T (p.Arg275Ter)	XRCC4 (R275*)	Single nucleotide variant (nonsense)	Short stature, microcephaly, and endocrine dysfunction	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 30063	NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)	XRCC2 (R215*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group U +3 more	GConflicting classifications of pathogenicity

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Items: 29