Related gene-specific medical variations for Gene (Select 161742) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233319	NM_152594.3(SPRED1):c.684G>T (p.Arg228Ser)	SPRED1 (R228S)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 3065034	NM_152594.3(SPRED1):c.205dup (p.Met69fs)	SPRED1 (M69fs)	Duplication (frameshift variant)	Legius syndrome	GUncertain significance
Select item 2436318	NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala)	SPRED1 (E299A)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 1676445	NM_152594.3(SPRED1):c.24_25dup (p.Asp9fs)	SPRED1 (D9fs)	Duplication	Legius syndrome	GLikely pathogenic
Select item 1341771	NM_152594.3(SPRED1):c.32A>T (p.Asp11Val)	SPRED1 (D11V)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 1319863	NM_152594.3(SPRED1):c.354A>T (p.Arg118Ser)	SPRED1 (R118S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886069	NM_152594.3(SPRED1):c.-175G>T	LOC130056789, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 684970	GRCh37/hg19 15q14(chr15:38533577-38587586)x3	SPRED1	Copy number gain	not provided	GUncertain significance
Select item 624481	GRCh37/hg19 15q14(chr15:38466370-38578075)x1	SPRED1	Copy number loss	not provided	GLikely pathogenic
Select item 315730	NM_152594.3(SPRED1):c.-152C>A	LOC130056789, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315729	NM_152594.3(SPRED1):c.-156del	LOC130056789, SPRED1	Deletion (5 prime UTR variant)	Legius syndrome	GLikely benign
Select item 315727	NM_152594.3(SPRED1):c.-201G>A	LOC130056788, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315726	NM_152594.3(SPRED1):c.-244T>C	LOC130056788, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GBenign
Select item 41373	NM_152594.3(SPRED1):c.424-98=	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GBenign
Select item 41372	NM_152594.3(SPRED1):c.424-8=	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GBenign