ClinVar for Gene (Select 10801) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362038	NM_001113491.2(SEPTIN9):c.248_256del (p.Gln83_Ser85del)	SEPTIN9	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3317506	NM_001113491.2(SEPTIN9):c.494T>G (p.Met165Arg)	SEPTIN9 (M146R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243182	NC_000017.10:g.(?_75488683)_(75494740_?)dup	SEPTIN9	Duplication	not provided	GUncertain significance
Select item 3243181	NC_000017.10:g.(?_75316409)_(75316450_?)dup	SEPTIN9	Duplication	not provided	GUncertain significance
Select item 3160210	NM_001113491.2(SEPTIN9):c.47T>A (p.Leu16His)	LOC111429614, SEPTIN9 (L16H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3160209	NM_001113491.2(SEPTIN9):c.460A>G (p.Ile154Val)	SEPTIN9 (I135V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3160207	NM_001113491.2(SEPTIN9):c.354G>C (p.Gln118His)	SEPTIN9 (Q100H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3160206	NM_001113491.2(SEPTIN9):c.353A>C (p.Gln118Pro)	SEPTIN9 (Q100P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3160205	NM_001113491.2(SEPTIN9):c.28C>T (p.Arg10Trp)	LOC111429614, SEPTIN9 (R10W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3160204	NM_001113491.2(SEPTIN9):c.1553C>A (p.Thr518Asn)	SEPTIN9 (T267N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160203	NM_001113491.2(SEPTIN9):c.1480A>C (p.Met494Leu)	SEPTIN9 (M487L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064407	NM_001113491.2(SEPTIN9):c.1262+1G>C	SEPTIN9	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 3060655	NM_001113491.2(SEPTIN9):c.721+2406C>T	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	SEPTIN9-related disorder	GBenign
Select item 3056308	NM_001113491.2(SEPTIN9):c.9_10insG	SEPTIN9	Insertion (3 prime UTR variant)	SEPTIN9-related disorder	GLikely benign
Select item 3052734	NM_001113491.2(SEPTIN9):c.387G>C (p.Arg129=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3052371	NM_001113491.2(SEPTIN9):c.162C>G (p.Ala54=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3051290	NM_001113491.2(SEPTIN9):c.722-6578G>A	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	SEPTIN9-related disorder	GLikely benign
Select item 3049408	NM_001113491.2(SEPTIN9):c.722-6424G>C	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GLikely benign
Select item 3034501	NM_001113491.2(SEPTIN9):c.721+2443G>A	SEPTIN9	Single nucleotide variant (intron variant)	SEPTIN9-related disorder	GLikely benign
Select item 3020137	NM_001113491.2(SEPTIN9):c.749G>A (p.Gly250Asp)	SEPTIN9 (G243D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017283	NM_001113491.2(SEPTIN9):c.721+7C>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014943	NM_001113491.2(SEPTIN9):c.1171C>T (p.Leu391=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012163	NM_001113491.2(SEPTIN9):c.1284G>A (p.Glu428=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010731	NM_001113491.2(SEPTIN9):c.426G>T (p.Thr142=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009801	NM_001113491.2(SEPTIN9):c.1056A>G (p.Lys352=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009304	NM_001113491.2(SEPTIN9):c.287C>T (p.Ser96Leu)	SEPTIN9 (S77L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3008894	NM_001113491.2(SEPTIN9):c.745G>A (p.Val249Ile)	SEPTIN9 (V230I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008085	NM_001113491.2(SEPTIN9):c.320G>A (p.Arg107His)	SEPTIN9 (R88H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3007195	NM_001113491.2(SEPTIN9):c.1318G>A (p.Val440Ile)	SEPTIN9 (V276I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004517	NM_001113491.2(SEPTIN9):c.1125-15C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002773	NM_001113491.2(SEPTIN9):c.263C>T (p.Ala88Val)	SEPTIN9 (A69V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002370	NM_001113491.2(SEPTIN9):c.1582A>G (p.Thr528Ala)	SEPTIN9 (T364A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001846	NM_001113491.2(SEPTIN9):c.985C>A (p.Gln329Lys)	SEPTIN9 (Q310K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000193	NM_001113491.2(SEPTIN9):c.153A>G (p.Leu51=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999433	NM_001113491.2(SEPTIN9):c.334A>G (p.Ile112Val)	SEPTIN9 (I105V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998799	NM_001113491.2(SEPTIN9):c.415G>A (p.Gly139Ser)	SEPTIN9 (G121S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997766	NM_001113491.2(SEPTIN9):c.734C>A (p.Ala245Asp)	SEPTIN9 (A227D +5 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2995749	NM_001113491.2(SEPTIN9):c.914-11C>G	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995154	NM_001113491.2(SEPTIN9):c.512A>G (p.Lys171Arg)	SEPTIN9 (K164R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994242	NM_001113491.2(SEPTIN9):c.545A>G (p.Asp182Gly)	SEPTIN9 (D182G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993719	NM_001113491.2(SEPTIN9):c.921C>T (p.Ser307=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993575	NM_001113491.2(SEPTIN9):c.672G>C (p.Glu224Asp)	SEPTIN9 (E205D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991673	NM_001113491.2(SEPTIN9):c.1379G>A (p.Arg460Gln)	SEPTIN9 (R453Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989921	NM_001113491.2(SEPTIN9):c.1117G>A (p.Glu373Lys)	SEPTIN9 (E149K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989744	NM_001113491.2(SEPTIN9):c.365C>T (p.Ala122Val)	SEPTIN9 (A103V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989458	NM_001113491.2(SEPTIN9):c.423G>A (p.Lys141=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989098	NM_001113491.2(SEPTIN9):c.462C>T (p.Ile154=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988533	NM_001113491.2(SEPTIN9):c.873G>A (p.Lys291=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987130	NM_001113491.2(SEPTIN9):c.488G>A (p.Arg163Gln)	SEPTIN9 (R156Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985234	NM_001113491.2(SEPTIN9):c.686C>A (p.Pro229His)	SEPTIN9 (P211H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983035	NM_001113491.2(SEPTIN9):c.319C>T (p.Arg107Cys)	SEPTIN9 (R107C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2981939	NM_001113491.2(SEPTIN9):c.364G>C (p.Ala122Pro)	SEPTIN9 (A103P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2979430	NM_001113491.2(SEPTIN9):c.1573+19G>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978045	NM_006640.5(SEPTIN9):c.14G>A (p.Arg5Gln)	SEPTIN9 (R5Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977426	NM_001113491.2(SEPTIN9):c.1477-17G>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975804	NM_001113491.2(SEPTIN9):c.688C>G (p.Pro230Ala)	SEPTIN9 (P230A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974622	NM_001113491.2(SEPTIN9):c.1125-20C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970738	NM_001113491.2(SEPTIN9):c.780G>A (p.Gly260=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966742	NM_001113491.2(SEPTIN9):c.733G>A (p.Ala245Thr)	SEPTIN9 (A245T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966731	NM_001113491.2(SEPTIN9):c.548C>T (p.Ala183Val)	SEPTIN9 (A164V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2966456	NM_001113491.2(SEPTIN9):c.1600G>A (p.Ala534Thr)	SEPTIN9 (A283T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964652	NM_001113491.2(SEPTIN9):c.986A>G (p.Gln329Arg)	SEPTIN9 (Q322R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959921	NM_001113491.2(SEPTIN9):c.748G>A (p.Gly250Ser)	SEPTIN9 (G231S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958749	NM_001113491.2(SEPTIN9):c.1043-7T>C	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958381	NM_001113491.2(SEPTIN9):c.1410C>T (p.Ile470=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957207	NM_001113491.2(SEPTIN9):c.1573+15C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2920298	NM_001113491.2(SEPTIN9):c.1691G>A (p.Arg564His)	SEPTIN9 (R545H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2907953	NM_001113491.2(SEPTIN9):c.972C>T (p.Ser324=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899979	NM_001113491.2(SEPTIN9):c.1387G>A (p.Ala463Thr)	SEPTIN9 (A212T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898465	NM_001113491.2(SEPTIN9):c.144G>A (p.Gln48=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895607	NM_001113491.2(SEPTIN9):c.288G>A (p.Ser96=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893730	NM_001113491.2(SEPTIN9):c.1038G>A (p.Thr346=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892793	NM_001113491.2(SEPTIN9):c.1711G>A (p.Ala571Thr)	SEPTIN9 (A571T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889468	NM_001113491.2(SEPTIN9):c.822G>A (p.Val274=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887417	NM_001113491.2(SEPTIN9):c.1038G>T (p.Thr346=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885837	NM_001113491.2(SEPTIN9):c.106G>A (p.Val36Ile)	SEPTIN9 (V18I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878266	NM_001113491.2(SEPTIN9):c.570C>T (p.Ile190=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873610	NM_001113491.2(SEPTIN9):c.887G>T (p.Gly296Val)	SEPTIN9 (G278V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868201	NM_001113491.2(SEPTIN9):c.1263-11C>G	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867799	NM_001113491.2(SEPTIN9):c.645T>G (p.Pro215=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867791	NM_001113491.2(SEPTIN9):c.237C>T (p.Asp79=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2860969	NM_001113491.2(SEPTIN9):c.813G>A (p.Lys271=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858242	NM_001113491.2(SEPTIN9):c.1113C>T (p.Asn371=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851117	NM_001113491.2(SEPTIN9):c.1095G>T (p.Gly365=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844836	NM_001113491.2(SEPTIN9):c.915G>A (p.Gly305=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842778	NM_001113491.2(SEPTIN9):c.291C>T (p.Gly97=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2834952	NM_001113491.2(SEPTIN9):c.1403A>G (p.Asn468Ser)	SEPTIN9 (N244S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833180	NM_001113491.2(SEPTIN9):c.1750C>G (p.Pro584Ala)	SEPTIN9 (P333A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831862	NM_001113491.2(SEPTIN9):c.76+13156_76+13157delinsCG	SEPTIN9	Indel (intron variant)	not provided	GUncertain significance
Select item 2827594	NM_001113491.2(SEPTIN9):c.354G>T (p.Gln118His)	SEPTIN9 (Q111H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2812761	NM_001113491.2(SEPTIN9):c.360G>C (p.Glu120Asp)	SEPTIN9 (E120D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2807394	NM_001113491.2(SEPTIN9):c.1730A>T (p.Glu577Val)	SEPTIN9 (E558V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807393	NM_001113491.2(SEPTIN9):c.1726_1728del (p.Met576del)	SEPTIN9 (M325del +6 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2803534	NM_001113491.2(SEPTIN9):c.1508A>C (p.Asp503Ala)	SEPTIN9 (D484A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794390	NM_001113491.2(SEPTIN9):c.721+12A>G	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793575	NM_001113491.2(SEPTIN9):c.1467G>C (p.Glu489Asp)	SEPTIN9 (E471D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788130	NM_001113491.2(SEPTIN9):c.1343C>T (p.Thr448Ile)	SEPTIN9 (T430I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781362	NM_001113491.2(SEPTIN9):c.1574-4C>G	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779051	NM_001113491.2(SEPTIN9):c.227G>A (p.Arg76His)	SEPTIN9 (R58H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776582	NM_001113491.2(SEPTIN9):c.1035C>T (p.Ile345=)	SEPTIN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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