"Ambry Genetics"[submitter] AND "SEPTIN9"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2482391	NM_001113491.2(SEPTIN9):c.32C>T (p.Thr11Ile)	LOC111429614, SEPTIN9 (T11I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2465025	NM_001113491.2(SEPTIN9):c.53G>C (p.Arg18Thr)	LOC111429614, SEPTIN9 (R18T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2445517	NM_001113491.2(SEPTIN9):c.91T>C (p.Phe31Leu)	SEPTIN9 (F12L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1682584	NM_001113491.2(SEPTIN9):c.226C>T (p.Arg76Cys)	SEPTIN9 (R57C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1682610	NM_001113491.2(SEPTIN9):c.514G>A (p.Val172Ile)	SEPTIN9 (V153I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2484693	NM_001113491.2(SEPTIN9):c.634G>A (p.Glu212Lys)	SEPTIN9 (E212K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537932	NM_001113491.2(SEPTIN9):c.654G>T (p.Gln218His)	SEPTIN9 (Q199H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479110	NM_001113491.2(SEPTIN9):c.796G>A (p.Ala266Thr)	SEPTIN9 (A259T +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1209975	NM_001113491.2(SEPTIN9):c.974G>A (p.Arg325Gln)	SEPTIN9 (R101Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1682640	NM_001113491.2(SEPTIN9):c.1064G>A (p.Arg355Gln)	SEPTIN9 (R104Q +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2488543	NM_001113491.2(SEPTIN9):c.1069A>C (p.Lys357Gln)	SEPTIN9 (K339Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance