ClinVar for MedGen (Select 320318) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689941	NM_001113491.2(SEPTIN9):c.362A>G (p.Asn121Ser)	SEPTIN9 (N102S +3 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic neuralgia	GUncertain significance
Select item 2689940	NM_001113491.2(SEPTIN9):c.1166A>G (p.Lys389Arg)	SEPTIN9 (K138R +6 more)	Single nucleotide variant (missense variant)	Amyotrophic neuralgia	GUncertain significance
Select item 2435813	NM_001113491.2(SEPTIN9):c.1381-4C>G	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia	GUncertain significance
Select item 978094	NM_001113491.2(SEPTIN9):c.1219C>T (p.Arg407Cys)	SEPTIN9 (R156C +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 892527	NM_001113491.2(SEPTIN9):c.1699G>A (p.Glu567Lys)	SEPTIN9 (E560K +6 more)	Single nucleotide variant (missense variant)	Amyotrophic neuralgia +2 more	GConflicting classifications of pathogenicity
Select item 891713	NM_001113491.2(SEPTIN9):c.*1675C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 891641	NM_001113491.2(SEPTIN9):c.*732G>C	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 891640	NM_001113491.2(SEPTIN9):c.*647G>C	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 891456	NM_001113491.2(SEPTIN9):c.*1548C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 891455	NM_001113491.2(SEPTIN9):c.*1314C>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 891454	NM_001113491.2(SEPTIN9):c.*1253T>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 891453	NM_001113491.2(SEPTIN9):c.*1124C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 891397	NM_001113491.2(SEPTIN9):c.*647G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 891396	NM_001113491.2(SEPTIN9):c.*628G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 891395	NM_001113491.2(SEPTIN9):c.*578G>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 891337	NM_001113491.2(SEPTIN9):c.1465G>A (p.Glu489Lys)	SEPTIN9 (E489K +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891336	NM_001113491.2(SEPTIN9):c.1386C>T (p.Thr462=)	SEPTIN9	Single nucleotide variant (synonymous variant)	Amyotrophic neuralgia	GBenign
Select item 891278	NM_001113491.2(SEPTIN9):c.146C>A (p.Thr49Asn)	SEPTIN9 (T31N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891277	NM_001113491.2(SEPTIN9):c.76+12954C>T	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GUncertain significance
Select item 889906	NM_001113491.2(SEPTIN9):c.*1012G>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 889905	NM_001113491.2(SEPTIN9):c.*959G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 889846	NM_001113491.2(SEPTIN9):c.*373G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 889845	NM_001113491.2(SEPTIN9):c.*372C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 889785	NM_001113491.2(SEPTIN9):c.1124+8C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889729	NM_001113491.2(SEPTIN9):c.76+12716G>A	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GUncertain significance
Select item 889285	NM_001113491.2(SEPTIN9):c.*1832A>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 889230	NM_001113491.2(SEPTIN9):c.*911C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 889229	NM_001113491.2(SEPTIN9):c.*904G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 889168	NM_001113491.2(SEPTIN9):c.*56A>C	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 889167	NM_001113491.2(SEPTIN9):c.*15A>C	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 889166	NM_001113491.2(SEPTIN9):c.*2C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 889089	NM_001113491.2(SEPTIN9):c.907G>A (p.Val303Met)	SEPTIN9 (V139M +6 more)	Single nucleotide variant (missense variant)	Amyotrophic neuralgia +2 more	GConflicting classifications of pathogenicity
Select item 889088	NM_001113491.2(SEPTIN9):c.802C>T (p.Arg268Trp)	SEPTIN9 (R249W +6 more)	Single nucleotide variant (missense variant)	Amyotrophic neuralgia	GUncertain significance
Select item 889037	NM_001113491.2(SEPTIN9):c.76+12321C>G	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GUncertain significance
Select item 756206	NM_001113491.2(SEPTIN9):c.1063C>T (p.Arg355Trp)	SEPTIN9 (R336W +6 more)	Single nucleotide variant (missense variant)	Amyotrophic neuralgia +2 more	GConflicting classifications of pathogenicity
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 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 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 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 719224	NM_001113491.2(SEPTIN9):c.579C>G (p.Pro193=)	SEPTIN9	Single nucleotide variant (synonymous variant)	Amyotrophic neuralgia +1 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 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 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 518265	NM_001113491.2(SEPTIN9):c.77-28563T>C	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 446761	NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro)	SEPTIN9 (Q99P +3 more)	Indel (missense variant +1 more)	Amyotrophic neuralgia +2 more	GConflicting classifications of pathogenicity
Select item 325618	NM_001113491.2(SEPTIN9):c.*1900A>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325617	NM_001113491.2(SEPTIN9):c.*1896A>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325616	NM_001113491.2(SEPTIN9):c.*1847G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325615	NM_001113491.2(SEPTIN9):c.*1724G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325614	NM_001113491.2(SEPTIN9):c.*1720T>C	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325613	NM_001113491.2(SEPTIN9):c.*1639C>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia +1 more	GConflicting classifications of pathogenicity
Select item 325611	NM_001113491.2(SEPTIN9):c.*1463G>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325610	NM_001113491.2(SEPTIN9):c.*1292G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325609	NM_001113491.2(SEPTIN9):c.*1233C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325608	NM_001113491.2(SEPTIN9):c.*1204A>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325606	NM_001113491.2(SEPTIN9):c.*1035G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325605	NM_001113491.2(SEPTIN9):c.*989T>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325604	NM_001113491.2(SEPTIN9):c.*955C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325603	NM_001113491.2(SEPTIN9):c.*939A>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325602	NM_001113491.2(SEPTIN9):c.*903C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia +1 more	GConflicting classifications of pathogenicity
Select item 325601	NM_001113491.2(SEPTIN9):c.*876C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325600	NM_001113491.2(SEPTIN9):c.*867G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325599	NM_001113491.2(SEPTIN9):c.*789G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325598	NM_001113491.2(SEPTIN9):c.*783A>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325597	NM_001113491.2(SEPTIN9):c.*764C>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325596	NM_001113491.2(SEPTIN9):c.*759A>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325595	NM_001113491.2(SEPTIN9):c.*740C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325594	NM_001113491.2(SEPTIN9):c.*718C>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325593	NM_001113491.2(SEPTIN9):c.*709C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325592	NM_001113491.2(SEPTIN9):c.*657T>C	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325591	NM_001113491.2(SEPTIN9):c.*586A>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325590	NM_001113491.2(SEPTIN9):c.*573C>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325589	NM_001113491.2(SEPTIN9):c.*479C>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GLikely benign
Select item 325588	NM_001113491.2(SEPTIN9):c.*454G>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325587	NM_001113491.2(SEPTIN9):c.*417C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
Select item 325586	NM_001113491.2(SEPTIN9):c.*377T>G	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
Select item 325585	NM_001113491.2(SEPTIN9):c.*325T>C	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 325584	NM_001113491.2(SEPTIN9):c.*283C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 325580	NM_001113491.2(SEPTIN9):c.*55dup	SEPTIN9	Duplication (3 prime UTR variant)	not provided +2 more	GBenign
Select item 325579	NM_001113491.2(SEPTIN9):c.*45C>T	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GUncertain significance
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 325577	NM_001113491.2(SEPTIN9):c.*20C>A	SEPTIN9	Single nucleotide variant (3 prime UTR variant)	Amyotrophic neuralgia	GBenign
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 325569	NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 325567	NM_001113491.2(SEPTIN9):c.1584C>G (p.Thr528=)	SEPTIN9	Single nucleotide variant (synonymous 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 325565	NM_001113491.2(SEPTIN9):c.1573+10G>A	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia +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 325563	NM_001113491.2(SEPTIN9):c.1477-9G>A	SEPTIN9	Single nucleotide variant (intron 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 325561	NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=)	SEPTIN9	Single nucleotide variant (synonymous variant)	Amyotrophic neuralgia +2 more	GBenign/Likely benign
Select item 325560	NM_001113491.2(SEPTIN9):c.1320C>G (p.Val440=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325559	NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 325558	NM_001113491.2(SEPTIN9):c.1125-5C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 325556	NM_001113491.2(SEPTIN9):c.1043-4G>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 325555	NM_001113491.2(SEPTIN9):c.1042+10C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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