"Center for Human Genetics, Inc, Center for Human Genetics, Inc"[submi - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547788	NM_152594.3(SPRED1):c.1_2del (p.Met1fs)	SPRED1 (M1fs)	Deletion (frameshift variant +1 more)	Legius syndrome	GLikely pathogenic
Select item 547789	NM_152594.3(SPRED1):c.7_20del (p.Glu3fs)	SPRED1 (E3fs)	Deletion (frameshift variant)	Legius syndrome	GPathogenic
Select item 547790	NM_152594.3(SPRED1):c.24del (p.Asp9fs)	SPRED1 (D9fs)	Deletion (frameshift variant)	Legius syndrome	GLikely pathogenic
Select item 536693	NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)	SPRED1 (R18*)	Single nucleotide variant (nonsense)	Legius syndrome +1 more	GPathogenic
Select item 547791	NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter)	SPRED1 (G35*)	Single nucleotide variant (nonsense)	Legius syndrome	GPathogenic
Select item 1813	NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)	SPRED1 (R64*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 536688	NM_152594.3(SPRED1):c.304dup (p.Thr102fs)	SPRED1 (T102fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 220172	NM_152594.3(SPRED1):c.796_797del (p.Met266fs)	SPRED1 (M266fs)	Deletion (frameshift variant)	Legius syndrome +1 more	GPathogenic/Likely pathogenic
Select item 547792	NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs)	SPRED1 (S295fs)	Duplication (frameshift variant)	Legius syndrome	GLikely pathogenic
Select item 178134	NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)	SPRED1 (V309A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity