Related gene-specific medical variations for Gene (Select 10801) - ClinVar

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Items: 40

	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 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 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 3064407	NM_001113491.2(SEPTIN9):c.1262+1G>C	SEPTIN9	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
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 2648327	NM_001113491.2(SEPTIN9):c.50G>A (p.Arg17Gln)	LOC111429614, SEPTIN9 (R17Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2435813	NM_001113491.2(SEPTIN9):c.1381-4C>G	SEPTIN9	Single nucleotide variant (intron variant)	Amyotrophic neuralgia	GUncertain significance
Select item 1723379	NM_001113491.2(SEPTIN9):c.19+2del	SEPTIN9, SEPTIN9-DT	Deletion (splice donor variant)	not specified	GUncertain significance
Select item 1239714	NM_001113491.2(SEPTIN9):c.-7A>C	SEPTIN9-DT, SEPTIN9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1220136	NM_001113491.2(SEPTIN9):c.19+89C>T	SEPTIN9-DT, SEPTIN9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1212908	NM_001113491.2(SEPTIN9):c.19+253C>G	SEPTIN9, SEPTIN9-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1204281	NM_001113491.2(SEPTIN9):c.19+321C>G	SEPTIN9, SEPTIN9-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1202918	NM_001113491.2(SEPTIN9):c.77-28668C>T	LOC130061758, SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1201513	NM_001113491.2(SEPTIN9):c.77-28704G>C	LOC130061758, SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1193355	NM_001113491.2(SEPTIN9):c.20-65T>C	LOC111429614, SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191162	NM_001113491.2(SEPTIN9):c.19+320G>A	SEPTIN9, SEPTIN9-DT	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 694908	NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg)	SEPTIN9 (S550R +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694907	NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val)	SEPTIN9 (M476V +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694906	NM_001113491.2(SEPTIN9):c.1476+2T>G	SEPTIN9	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694904	NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT	SEPTIN9	Indel (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694903	NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr)	SEPTIN9 (D232Y +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694902	NM_001113491.2(SEPTIN9):c.722-7T>C	SEPTIN9	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694901	NM_001113491.2(SEPTIN9):c.722-6324del	SEPTIN9 (L101fs)	Deletion (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694900	NM_001113491.2(SEPTIN9):c.722-6334T>C	SEPTIN9 (C98R)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694899	NM_001113491.2(SEPTIN9):c.722-6423del	SEPTIN9 (G68fs)	Deletion (5 prime UTR variant +1 more)	Hereditary sodium channelopathy-related small fibers neuropathy	GUncertain significance
Select item 694898	NM_001113491.2(SEPTIN9):c.722-6589G>C	SEPTIN9	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694897	NM_001113491.2(SEPTIN9):c.722-6624T>C	SEPTIN9	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 694896	NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser)	SEPTIN9 (P195S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694895	NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly)	SEPTIN9 (A198G +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694894	NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp)	SEPTIN9 (E53D +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694893	NM_001113491.2(SEPTIN9):c.19+4829C>A	LOC126862651, SEPTIN9	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 590282	t(11;17)(q23;q25)	KMT2A, SEPTIN9	Translocation	Acute megakaryoblastic leukemia	GPathogenic
Select item 441964	GRCh37/hg19 17q25.3(chr17:75447984-75563387)x3	SEPTIN9	Copy number gain	See cases	GUncertain significance
Select item 425146	NM_001113491.2(SEPTIN9):c.26C>T (p.Thr9Met)	LOC111429614, SEPTIN9 (T9M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 253747	GRCh37/hg19 17q25.3(chr17:75468978-75556850)x3	SEPTIN9	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 40