"PreventionGenetics, part of Exact Sciences"[submitter] AND "SEC23IP"[ - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 780914	NM_007190.4(SEC23IP):c.133G>A (p.Ala45Thr)	SEC23IP (A45T)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder +1 more	GBenign
Select item 3036226	NM_007190.4(SEC23IP):c.342C>T (p.Pro114=)	SEC23IP	Single nucleotide variant (synonymous variant)	SEC23IP-related disorder	GLikely benign
Select item 771886	NM_007190.4(SEC23IP):c.625C>T (p.Pro209Ser)	SEC23IP (P209S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3046351	NM_007190.4(SEC23IP):c.808C>T (p.Gln270Ter)	SEC23IP (Q270*)	Single nucleotide variant (nonsense +1 more)	SEC23IP-related disorder	GUncertain significance
Select item 3044355	NM_007190.4(SEC23IP):c.900T>A (p.Tyr300Ter)	SEC23IP (Y300*)	Single nucleotide variant (nonsense +1 more)	SEC23IP-related disorder	GUncertain significance
Select item 3053192	NM_007190.4(SEC23IP):c.1102-7A>C	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GLikely benign
Select item 3034390	NM_007190.4(SEC23IP):c.1237A>G (p.Thr413Ala)	SEC23IP (T413A)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 3049228	NM_007190.4(SEC23IP):c.1241C>T (p.Thr414Met)	SEC23IP (T414M)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 3055672	NM_007190.4(SEC23IP):c.1287T>C (p.Asp429=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GBenign
Select item 3049764	NM_007190.4(SEC23IP):c.1312+3G>A	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GLikely benign
Select item 3042411	NM_007190.4(SEC23IP):c.1403-9C>A	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GBenign
Select item 3052952	NM_007190.4(SEC23IP):c.1519G>T (p.Gly507Cys)	SEC23IP (G507C)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 3046388	NM_007190.4(SEC23IP):c.1836T>C (p.Asn612=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 3039499	NM_007190.4(SEC23IP):c.1912G>C (p.Asp638His)	SEC23IP (D638H)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GBenign
Select item 3059313	NM_007190.4(SEC23IP):c.1930A>G (p.Lys644Glu)	SEC23IP (K644E)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder	GBenign
Select item 3055417	NM_007190.4(SEC23IP):c.2133G>A (p.Ala711=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GBenign
Select item 732120	NM_007190.4(SEC23IP):c.2153C>T (p.Ala718Val)	SEC23IP (A718V)	Single nucleotide variant (missense variant +1 more)	SEC23IP-related disorder +1 more	GBenign
Select item 3056185	NM_007190.4(SEC23IP):c.2313+10C>T	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GBenign
Select item 3049274	NM_007190.4(SEC23IP):c.2427C>T (p.Tyr809=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GLikely benign
Select item 3035255	NM_007190.4(SEC23IP):c.2922-4A>T	SEC23IP	Single nucleotide variant (intron variant)	SEC23IP-related disorder	GBenign
Select item 3056457	NM_007190.4(SEC23IP):c.2970A>G (p.Thr990=)	SEC23IP	Single nucleotide variant (synonymous variant +1 more)	SEC23IP-related disorder	GBenign

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Items: 21