"SEMA6D-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2389108	NM_001358351.3(SEMA6D):c.197G>A (p.Arg66Gln)	SEMA6D (R66Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3055596	NM_001358351.3(SEMA6D):c.204A>C (p.Thr68=)	SEMA6D	Single nucleotide variant (synonymous variant)	SEMA6D-related disorder	GBenign
Select item 3031735	NM_001358351.3(SEMA6D):c.380C>G (p.Pro127Arg)	SEMA6D (P127R)	Single nucleotide variant (missense variant)	SEMA6D-related disorder	GUncertain significance
Select item 3046734	NM_001358351.3(SEMA6D):c.462A>G (p.Glu154=)	SEMA6D	Single nucleotide variant (synonymous variant)	SEMA6D-related disorder	GLikely benign
Select item 3041564	NM_001358351.3(SEMA6D):c.615A>T (p.Gly205=)	SEMA6D	Single nucleotide variant (synonymous variant)	SEMA6D-related disorder	GLikely benign
Select item 3057033	NM_001358351.3(SEMA6D):c.920A>G (p.Asn307Ser)	SEMA6D (N307S)	Single nucleotide variant (missense variant)	SEMA6D-related disorder	GBenign
Select item 3035160	NM_001358351.3(SEMA6D):c.966-3C>T	SEMA6D	Single nucleotide variant (intron variant)	SEMA6D-related disorder	GLikely benign
Select item 3035913	NM_001358351.3(SEMA6D):c.1017A>G (p.Val339=)	SEMA6D	Single nucleotide variant (synonymous variant)	SEMA6D-related disorder	GLikely benign
Select item 3048294	NM_001358351.3(SEMA6D):c.1119C>T (p.His373=)	LOC126862120, SEMA6D	Single nucleotide variant (synonymous variant)	SEMA6D-related disorder	GLikely benign
Select item 3034693	NM_001358351.3(SEMA6D):c.1266G>A (p.Thr422=)	LOC126862120, SEMA6D	Single nucleotide variant (synonymous variant)	SEMA6D-related disorder	GLikely benign
Select item 3060165	NM_001358351.3(SEMA6D):c.1433G>A (p.Ser478Asn)	SEMA6D (S478N)	Single nucleotide variant (missense variant)	SEMA6D-related disorder	GBenign
Select item 3043226	NM_001358351.3(SEMA6D):c.2093A>G (p.His698Arg)	SEMA6D (H623R +4 more)	Single nucleotide variant (missense variant +1 more)	SEMA6D-related disorder	GLikely benign
Select item 3043182	NM_001358351.3(SEMA6D):c.2285G>A (p.Arg762Gln)	SEMA6D (R687Q +4 more)	Single nucleotide variant (missense variant +1 more)	SEMA6D-related disorder	GBenign
Select item 3057117	NM_001358351.3(SEMA6D):c.2334C>T (p.Pro778=)	SEMA6D	Single nucleotide variant (synonymous variant +1 more)	SEMA6D-related disorder	GLikely benign
Select item 3040939	NM_001358351.3(SEMA6D):c.2652G>A (p.Lys884=)	SEMA6D	Single nucleotide variant (synonymous variant +1 more)	SEMA6D-related disorder	GLikely benign
Select item 3047659	NM_001358351.3(SEMA6D):c.2688C>A (p.Ile896=)	SEMA6D	Single nucleotide variant (synonymous variant +1 more)	SEMA6D-related disorder	GLikely benign
Select item 3043117	NM_001358351.3(SEMA6D):c.2974C>G (p.Gln992Glu)	SEMA6D (Q917E +4 more)	Single nucleotide variant (missense variant +1 more)	SEMA6D-related disorder	GLikely benign
Select item 3053312	NM_001358351.3(SEMA6D):c.3046C>T (p.Pro1016Ser)	SEMA6D (P941S +4 more)	Single nucleotide variant (missense variant +1 more)	SEMA6D-related disorder	GLikely benign
Select item 3052979	NM_001358351.3(SEMA6D):c.3132G>A (p.Arg1044=)	SEMA6D	Single nucleotide variant (synonymous variant +1 more)	SEMA6D-related disorder	GLikely benign