"Ambry Genetics"[submitter] AND "SEPSECS"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1393721	NM_016955.4(SEPSECS):c.1496C>T (p.Ala499Val)	SEPSECS (A499V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3160011	NM_016955.4(SEPSECS):c.1344C>A (p.Asp448Glu)	SEPSECS (D448E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 348552	NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala)	SEPSECS (T426A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1470445	NM_016955.4(SEPSECS):c.1207G>A (p.Ala403Thr)	SEPSECS (A403T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3317468	NM_016955.4(SEPSECS):c.1151G>A (p.Arg384His)	SEPSECS (R469H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2151013	NM_016955.4(SEPSECS):c.1120+5T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1398127	NM_016955.4(SEPSECS):c.1111A>C (p.Ile371Leu)	SEPSECS (I371L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2295494	NM_016955.4(SEPSECS):c.1079A>G (p.Asn360Ser)	SEPSECS (N360S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242958	NM_016955.4(SEPSECS):c.1057AAG[1] (p.Lys354del)	SEPSECS (K354del +1 more)	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495480	NM_016955.4(SEPSECS):c.973A>C (p.Thr325Pro)	SEPSECS (T325P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160015	NM_016955.4(SEPSECS):c.963T>G (p.Asp321Glu)	SEPSECS (D321E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607474	NM_016955.4(SEPSECS):c.937A>G (p.Arg313Gly)	SEPSECS (R398G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 695635	NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly)	SEPSECS (S307G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1209835	NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val)	SEPSECS (I275V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1075426	NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)	SEPSECS (R271*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 2D +2 more	GPathogenic/Likely pathogenic
Select item 279890	NM_016955.5(SEPSECS):c.808dup	SEPSECS	Duplication (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2283609	NM_016955.4(SEPSECS):c.664T>G (p.Ser222Ala)	SEPSECS (S222A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484978	NM_016955.4(SEPSECS):c.633A>T (p.Glu211Asp)	SEPSECS (E211D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522119	NM_016955.4(SEPSECS):c.612dup (p.Val205fs)	SEPSECS (V205fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2145430	NM_016955.4(SEPSECS):c.425T>C (p.Met142Thr)	SEPSECS (M227T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2145816	NM_016955.4(SEPSECS):c.424A>G (p.Met142Val)	SEPSECS (M142V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2203660	NM_016955.4(SEPSECS):c.392T>C (p.Val131Ala)	SEPSECS (V131A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 522118	NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp)	SEPSECS (N119D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3160013	NM_016955.4(SEPSECS):c.337C>T (p.Leu113Phe)	SEPSECS (L198F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547329	NM_016955.4(SEPSECS):c.319A>G (p.Lys107Glu)	SEPSECS (K192E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253048	NM_016955.4(SEPSECS):c.295G>A (p.Gly99Ser)	SEPSECS (G99S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466233	NM_016955.4(SEPSECS):c.270G>T (p.Arg90Ser)	SEPSECS (R175S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317469	NM_016955.4(SEPSECS):c.265T>C (p.Tyr89His)	SEPSECS (Y174H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611151	NM_016955.4(SEPSECS):c.186C>G (p.Asp62Glu)	SEPSECS (D62E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1338950	NM_016955.4(SEPSECS):c.94A>G (p.Ile32Val)	LOC129992330, SEPSECS (I32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2223555	NM_016955.4(SEPSECS):c.83A>G (p.His28Arg)	LOC129992330, SEPSECS (H28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160014	NM_016955.4(SEPSECS):c.50A>G (p.Tyr17Cys)	SEPSECS (Y17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160012	NM_016955.4(SEPSECS):c.32G>T (p.Arg11Leu)	SEPSECS (R11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 33