"Clinical Genetics, Academic Medical Center"[submitter] AND "SEPTIN9"[ - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518265	NM_001113491.2(SEPTIN9):c.77-28563T>C	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 325539	NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 5863	NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)	SEPTIN9 (R88W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 518266	NM_001113491.2(SEPTIN9):c.721+2405G>A	SEPTIN9 (C6Y)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 325551	NM_001113491.2(SEPTIN9):c.914-4C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 812141	NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala)	SEPTIN9 (V236A +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325564	NM_001113491.2(SEPTIN9):c.1573+9C>T	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia +1 more	GBenign
Select item 325566	NM_001113491.2(SEPTIN9):c.1574-10C>T	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia +2 more	GBenign
Select item 325568	NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val)	SEPTIN9 (M558V +6 more)	Single nucleotide variant (missense variant)	Amyotrophic neuralgia +2 more	GBenign
Select item 325569	NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign