"PreventionGenetics, part of Exact Sciences"[submitter] AND "SPRED1"[g - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47967	NM_152594.3(SPRED1):c.26A>T (p.Asp9Val)	SPRED1 (D9V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 2154407	NM_152594.3(SPRED1):c.101T>C (p.Leu34Pro)	SPRED1 (L34P)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 1741683	NM_152594.3(SPRED1):c.117A>G (p.Leu39=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 262666	NM_152594.3(SPRED1):c.207+37A>G	SPRED1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 41371	NM_152594.3(SPRED1):c.291G>A (p.Lys97=)	SPRED1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 516692	NM_152594.3(SPRED1):c.376+3A>T	SPRED1	Single nucleotide variant (intron variant)	SPRED1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 41452	NM_152594.3(SPRED1):c.424-18G>A	SPRED1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 41453	NM_152594.3(SPRED1):c.424-8C>A	SPRED1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 47969	NM_152594.3(SPRED1):c.583-7A>G	SPRED1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 2630858	NM_152594.3(SPRED1):c.626_636del (p.Met209fs)	SPRED1 (M209fs)	Deletion (frameshift variant)	SPRED1-related disorder	GLikely pathogenic
Select item 536689	NM_152594.3(SPRED1):c.634G>A (p.Val212Ile)	SPRED1 (V212I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 47970	NM_152594.3(SPRED1):c.675C>T (p.Ser225=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +5 more	GBenign/Likely benign
Select item 165293	NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)	SPRED1 (I234M)	Single nucleotide variant (missense variant)	SPRED1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 386548	NM_152594.3(SPRED1):c.879G>A (p.Leu293=)	SPRED1	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +5 more	GBenign/Likely benign
Select item 1896981	NM_152594.3(SPRED1):c.885T>C (p.Ser295=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign
Select item 41370	NM_152594.3(SPRED1):c.1044T>C (p.Val348=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign