"GeneDx"[submitter] AND "SP110"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 1218517	NM_080424.4(SP110):c.1660C>T (p.Arg554Ter)	SP110 (R554* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 334900	NM_080424.4(SP110):c.1650T>C (p.Gly550=)	SP110	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 817546	NM_080424.4(SP110):c.1261C>T (p.Arg421Ter)	SP110 (R421* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1305955	NM_080424.4(SP110):c.898+1G>A	SP110, SP140	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 334909	NM_080424.4(SP110):c.895G>A (p.Gly299Arg)	SP110, SP140 (G299R +1 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +2 more	GBenign
Select item 334911	NM_080424.4(SP110):c.617C>T (p.Ala206Val)	SP110, SP140 (A206V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 424358	NM_080424.4(SP110):c.80T>C (p.Ile27Thr)	SP110, SP140 (I27T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance