C4225288[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1467030	NM_003401.5(XRCC4):c.80C>T (p.Thr27Ile)	XRCC4 (T27I)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GUncertain significance
Select item 723092	NM_003401.5(XRCC4):c.139+7C>T	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)	not provided +1 more	GLikely benign
Select item 732343	NM_003401.5(XRCC4):c.140-4A>G	XRCC4	Single nucleotide variant (intron variant)	Short stature, microcephaly, and endocrine dysfunction +2 more	GLikely benign
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 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 1179135	NM_003401.5(XRCC4):c.265del (p.Ser89fs)	XRCC4 (S89fs)	Deletion (frameshift variant)	Short stature, microcephaly, and endocrine dysfunction	GLikely pathogenic
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 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 1632607	NM_003401.5(XRCC4):c.483-15T>G	XRCC4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 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 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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1369842	NM_003401.5(XRCC4):c.970A>C (p.Asn324His)	XRCC4 (N324H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance