"GeneDx"[submitter] AND "SGMS2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 635285	NM_001375905.1(SGMS2):c.148C>T (p.Arg50Ter)	CYP2U1-AS1, SGMS2 (R50*)	Single nucleotide variant (nonsense +1 more)	Calvarial doughnut lesions-bone fragility syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1265776	NM_001375905.1(SGMS2):c.574-150G>A	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269239	NM_001375905.1(SGMS2):c.574-60G>C	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369010	NM_001375905.1(SGMS2):c.613C>T (p.Arg205Ter)	CYP2U1-AS1, SGMS2 (R205* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1247035	NM_001375905.1(SGMS2):c.727+113G>A	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242245	NM_001375905.1(SGMS2):c.727+125A>G	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262045	NM_001375905.1(SGMS2):c.728-205C>T	CYP2U1-AS1, SGMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364707	NM_001375905.1(SGMS2):c.856C>T (p.Arg286Ter)	CYP2U1-AS1, SGMS2 (R113* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance