"PreventionGenetics, part of Exact Sciences"[submitter] AND "SEC24D"[g - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058562	NM_014822.4(SEC24D):c.3048T>C (p.Tyr1016=)	SEC24D	Single nucleotide variant (synonymous variant)	SEC24D-related disorder	GLikely benign
Select item 2003692	NM_014822.4(SEC24D):c.2977C>T (p.Arg993Ter)	SEC24D (R993* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 716452	NM_014822.4(SEC24D):c.2869A>G (p.Thr957Ala)	SEC24D (T957A +1 more)	Single nucleotide variant (missense variant)	SEC24D-related disorder +1 more	GLikely benign
Select item 1080663	NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met)	SEC24D (T894M +1 more)	Single nucleotide variant (missense variant)	SEC24D-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3030036	NM_014822.4(SEC24D):c.2614C>T (p.Leu872=)	SEC24D	Single nucleotide variant (synonymous variant)	SEC24D-related disorder	GLikely benign
Select item 718049	NM_014822.4(SEC24D):c.1929C>T (p.Asp643=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3030702	NM_014822.4(SEC24D):c.1801C>T (p.Leu601=)	SEC24D	Single nucleotide variant (synonymous variant)	SEC24D-related disorder	GLikely benign
Select item 445346	NM_014822.4(SEC24D):c.1042-6C>G	SEC24D	Single nucleotide variant (intron variant)	Cole-Carpenter syndrome 2 +2 more	GBenign/Likely benign
Select item 715974	NM_014822.4(SEC24D):c.822T>G (p.Asp274Glu)	SEC24D (D275E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 738929	NM_014822.4(SEC24D):c.755C>T (p.Pro252Leu)	SEC24D (P253L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 715975	NM_014822.4(SEC24D):c.599C>T (p.Pro200Leu)	SEC24D (P200L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2167215	NM_014822.4(SEC24D):c.249-8T>C	SEC24D	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 715976	NM_014822.4(SEC24D):c.209G>T (p.Gly70Val)	SEC24D (G70V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 782093	NM_014822.4(SEC24D):c.181C>A (p.Pro61Thr)	SEC24D (P61T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2470616	NM_014822.4(SEC24D):c.115A>G (p.Thr39Ala)	SEC24D (T39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance