"PreventionGenetics, part of Exact Sciences"[submitter] AND "SP110"[ge - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 750607	NM_080424.4(SP110):c.2100T>C (p.Gly700=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GLikely benign
Select item 1168473	NM_080424.4(SP110):c.1956G>A (p.Thr652=)	SP110	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 334899	NM_080424.4(SP110):c.1706+4A>T	SP110	Single nucleotide variant (intron variant)	SP110-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 534651	NM_080424.4(SP110):c.1647C>T (p.Cys549=)	SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +2 more	GBenign/Likely benign
Select item 334904	NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)	SP110 (G483R +2 more)	Single nucleotide variant (missense variant)	SP110-related disorder +3 more	GBenign/Likely benign
Select item 714568	NM_080424.4(SP110):c.1395C>T (p.Pro465=)	SP110	Single nucleotide variant (synonymous variant)	SP110-related disorder +1 more	GLikely benign
Select item 3050687	NM_080424.4(SP110):c.1176G>A (p.Val392=)	SP110	Single nucleotide variant (synonymous variant)	SP110-related disorder	GLikely benign
Select item 2040105	NM_080424.4(SP110):c.669G>A (p.Val223=)	SP110, SP140	Single nucleotide variant (synonymous variant)	SP110-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 334913	NM_080424.4(SP110):c.584-10C>G	SP110, SP140	Single nucleotide variant (intron variant)	SP110-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 466296	NM_080424.4(SP110):c.583+8A>G	SP110, SP140	Single nucleotide variant (intron variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +2 more	GConflicting classifications of pathogenicity
Select item 334915	NM_080424.4(SP110):c.542T>G (p.Leu181Arg)	SP110, SP140 (L181R +1 more)	Single nucleotide variant (missense variant)	SP110-related disorder +1 more	GBenign
Select item 466295	NM_080424.4(SP110):c.522C>T (p.Pro174=)	SP140, SP110	Single nucleotide variant (synonymous variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome +1 more	GBenign/Likely benign
Select item 1145733	NM_080424.4(SP110):c.144C>T (p.Tyr48=)	SP110, SP140	Single nucleotide variant (synonymous variant)	SP110-related disorder +1 more	GLikely benign
Select item 3044867	NM_001185015.2(SP110):c.-3G>T	SP110, SP140	Single nucleotide variant (5 prime UTR variant)	SP110-related disorder	GLikely benign