"Genome-Nilou Lab"[submitter] AND "SEPTIN9"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735036	NM_001113491.2(SEPTIN9):c.99C>T (p.Val33=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 710509	NM_001113491.2(SEPTIN9):c.141C>G (p.Val47=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic neuralgia +1 more	GBenign
Select item 325539	NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic neuralgia +2 more	GBenign/Likely benign
Select item 713383	NM_001113491.2(SEPTIN9):c.268C>T (p.Leu90=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 325541	NM_001113491.2(SEPTIN9):c.277G>T (p.Val93Leu)	SEPTIN9 (V75L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 325543	NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu)	SEPTIN9 (P127L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 719224	NM_001113491.2(SEPTIN9):c.579C>G (p.Pro193=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 325547	NM_001113491.2(SEPTIN9):c.600C>T (p.Thr200=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 755684	NM_001113491.2(SEPTIN9):c.687C>T (p.Pro229=)	SEPTIN9	Single nucleotide variant (synonymous variant)	Amyotrophic neuralgia +1 more	GBenign/Likely benign
Select item 325548	NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln)	SEPTIN9 (R219Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 325550	NM_001113491.2(SEPTIN9):c.912C>T (p.Val304=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 325551	NM_001113491.2(SEPTIN9):c.914-4C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 325552	NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=)	SEPTIN9	Single nucleotide variant (synonymous variant)	Amyotrophic neuralgia +2 more	GBenign
Select item 325553	NM_001113491.2(SEPTIN9):c.1041C>T (p.His347=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 325555	NM_001113491.2(SEPTIN9):c.1042+10C>T	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia +1 more	GBenign
Select item 325556	NM_001113491.2(SEPTIN9):c.1043-4G>A	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia +1 more	GBenign/Likely benign
Select item 756206	NM_001113491.2(SEPTIN9):c.1063C>T (p.Arg355Trp)	SEPTIN9 (R336W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 325557	NM_001113491.2(SEPTIN9):c.1125-10C>T	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia +1 more	GBenign/Likely benign
Select item 325558	NM_001113491.2(SEPTIN9):c.1125-5C>T	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia +1 more	GBenign/Likely benign
Select item 740503	NM_001113491.2(SEPTIN9):c.1161C>T (p.Tyr387=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 325559	NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 325561	NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 739231	NM_001113491.2(SEPTIN9):c.1398G>A (p.Leu466=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 325562	NM_001113491.2(SEPTIN9):c.1446G>A (p.Ser482=)	SEPTIN9	Single nucleotide variant (synonymous variant)	Amyotrophic neuralgia +1 more	GBenign
Select item 325563	NM_001113491.2(SEPTIN9):c.1477-9G>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 325564	NM_001113491.2(SEPTIN9):c.1573+9C>T	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia +1 more	GBenign
Select item 325565	NM_001113491.2(SEPTIN9):c.1573+10G>A	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia +1 more	GBenign/Likely benign
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)	not provided +2 more	GBenign
Select item 325569	NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=)	SEPTIN9	Single nucleotide variant (synonymous variant)	Amyotrophic neuralgia +1 more	GBenign/Likely benign
Select item 325573	NM_001113491.2(SEPTIN9):c.*6A>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 325578	NM_001113491.2(SEPTIN9):c.*40A>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia +1 more	GBenign
Select item 325580	NM_001113491.2(SEPTIN9):c.*55dup	SEPTIN9	Duplication (3 prime UTR variant)	not provided +2 more	GBenign
Select item 325582	NM_001113491.2(SEPTIN9):c.*207G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 325583	NM_001113491.2(SEPTIN9):c.*260C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia +1 more	GBenign
Select item 325584	NM_001113491.2(SEPTIN9):c.*283C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia +1 more	GBenign
Select item 325585	NM_001113491.2(SEPTIN9):c.*325T>C	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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Items: 37