10801[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590282	t(11;17)(q23;q25)	SEPTIN9, KMT2A	Translocation	Acute megakaryoblastic leukemia	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 1231914	NC_000017.11:g.77281145G>T	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GBenign
Select item 1248488	NC_000017.11:g.77281348C>G	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GBenign
Select item 1255034	NC_000017.11:g.77281351T>G	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GBenign
Select item 1227821	NC_000017.11:g.77281386G>T	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GBenign
Select item 1196918	NC_000017.11:g.77281498C>T	SEPTIN9, SEPTIN9-DT	Single nucleotide variant	not provided	GLikely benign
Select item 1239714	NM_001113491.2(SEPTIN9):c.-7A>C	SEPTIN9-DT, SEPTIN9	Single nucleotide variant (5 prime UTR variant)	SEPTIN9-related condition +1 more	GBenign
Select item 1723379	NM_001113491.2(SEPTIN9):c.19+2del	SEPTIN9, SEPTIN9-DT	Deletion (splice donor variant)	not specified	GUncertain significance
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 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 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 694893	NM_001113491.2(SEPTIN9):c.19+4829C>A	LOC126862651, SEPTIN9	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 1215687	NM_001113491.2(SEPTIN9):c.20-279G>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230464	NM_001113491.2(SEPTIN9):c.20-121G>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193355	NM_001113491.2(SEPTIN9):c.20-65T>C	LOC111429614, SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 425146	NM_001113491.2(SEPTIN9):c.26C>T (p.Thr9Met)	SEPTIN9, LOC111429614 (T9M)	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 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 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 518264	NM_001113491.2(SEPTIN9):c.76+19T>C	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296451	NM_001113491.2(SEPTIN9):c.76+223G>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189788	NM_001113491.2(SEPTIN9):c.76+236G>C	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220698	NM_001113491.2(SEPTIN9):c.76+12020T>C	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186683	NM_001113491.2(SEPTIN9):c.76+12133T>C	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208109	NM_001113491.2(SEPTIN9):c.76+12208G>C	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186802	NM_001113491.2(SEPTIN9):c.76+12306G>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187122	NM_001113491.2(SEPTIN9):c.76+12309G>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 369232	NM_001113491.2(SEPTIN9):c.76+12311C>T	SEPTIN9	Single nucleotide variant (intron variant)	Hereditary Neuralgic Amyotrophy (HNA)	GLikely benign
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 325527	NM_001113491.2(SEPTIN9):c.76+12350G>C	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GUncertain significance
Select item 325528	NM_001113491.2(SEPTIN9):c.76+12362T>G	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GBenign
Select item 325529	NM_001113491.2(SEPTIN9):c.76+12407G>A	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GUncertain significance
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 325530	NM_001113491.2(SEPTIN9):c.76+12730G>T	SEPTIN9	Single nucleotide variant (intron variant +1 more)	Amyotrophic neuralgia	GBenign
Select item 325531	NM_001113491.2(SEPTIN9):c.76+12764G>A	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia +1 more	GConflicting classifications of pathogenicity
Select item 325532	NM_001113491.2(SEPTIN9):c.76+12793G>A	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GUncertain significance
Select item 325533	NM_001113491.2(SEPTIN9):c.76+12812C>T	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 325534	NM_001113491.2(SEPTIN9):c.76+12824C>T	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GBenign
Select item 60173	GRCh38/hg38 17q25.3(chr17:77320131-77564650)x3	LOC100507351, LOC112268198 +27 more	Copy number gain	See cases	GUncertain significance
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 5865	NM_001113491.2(SEPTIN9):c.76+12996G>C	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GPathogenic
Select item 325535	NM_001113491.2(SEPTIN9):c.76+13013GAG[6]	SEPTIN9	Microsatellite (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325536	NM_001113491.2(SEPTIN9):c.76+13049A>G	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia +1 more	GBenign/Likely benign
Select item 1682570	NM_006640.5(SEPTIN9):c.7A>G (p.Arg3Gly)	SEPTIN9 (R3G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2648328	NM_006640.5(SEPTIN9):c.13C>G (p.Arg5Gly)	SEPTIN9 (R5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682572	NM_006640.5(SEPTIN9):c.13C>T (p.Arg5Trp)	SEPTIN9 (R5W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1682571	NM_006640.5(SEPTIN9):c.13C>A (p.Arg5=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	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 2831862	NM_001113491.2(SEPTIN9):c.76+13156_76+13157delinsCG	SEPTIN9	Indel (intron variant)	not provided	GUncertain significance
Select item 2445558	NM_001113491.2(SEPTIN9):c.76+13163G>A	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2445557	NM_001113491.2(SEPTIN9):c.76+13168del	SEPTIN9	Deletion (intron variant)	not provided	GBenign
Select item 1682573	NM_001113491.2(SEPTIN9):c.76+13168C>G	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2445541	NM_001113491.2(SEPTIN9):c.76+13170C>G	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200352	NM_001113491.2(SEPTIN9):c.76+13171C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1204544	NM_001113491.2(SEPTIN9):c.76+13176C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250457	NM_001113491.2(SEPTIN9):c.76+13218C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5866	NG_011683.2:g.92552_130155dup	LOC130061758, LOC130061759 +4 more	Duplication	Amyotrophic neuralgia	GPathogenic
Select item 1203996	NM_001113491.2(SEPTIN9):c.77-29191C>T	SEPTIN9	Single nucleotide variant (intron variant)	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 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 1196548	NM_001113491.2(SEPTIN9):c.77-28592C>T	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1241637	NM_001113491.2(SEPTIN9):c.77-28584C>T	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 1179496	NM_001113491.2(SEPTIN9):c.77-28458C>G	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188210	NM_001113491.2(SEPTIN9):c.77-28440C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187335	NM_001113491.2(SEPTIN9):c.77-287T>C	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196524	NM_001113491.2(SEPTIN9):c.77-29C>T	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682574	NM_001113491.2(SEPTIN9):c.77-9A>G	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2445573	NM_001113491.2(SEPTIN9):c.77-7T>C	SEPTIN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2445517	NM_001113491.2(SEPTIN9):c.91T>C (p.Phe31Leu)	SEPTIN9 (F12L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2445571	NM_001113491.2(SEPTIN9):c.97G>A (p.Val33Ile)	SEPTIN9 (V14I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2445527	NM_001113491.2(SEPTIN9):c.98T>C (p.Val33Ala)	SEPTIN9 (V14A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1163711	NM_001113491.2(SEPTIN9):c.109G>A (p.Glu37Lys)	SEPTIN9 (E18K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682575	NM_001113491.2(SEPTIN9):c.128C>G (p.Pro43Arg)	SEPTIN9 (P24R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 759915	NM_001113491.2(SEPTIN9):c.132C>G (p.Pro44=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2445471	NM_001113491.2(SEPTIN9):c.133C>T (p.Arg45Trp)	SEPTIN9 (R26W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 325537	NM_001113491.2(SEPTIN9):c.134G>A (p.Arg45Gln)	SEPTIN9 (R27Q +3 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic neuralgia +1 more	GUncertain significance
Select item 2445469	NM_001113491.2(SEPTIN9):c.138G>A (p.Arg46=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682576	NM_001113491.2(SEPTIN9):c.139G>T (p.Val47Phe)	SEPTIN9 (V28F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2898465	NM_001113491.2(SEPTIN9):c.144G>A (p.Gln48=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 794479	NM_001113491.2(SEPTIN9):c.148C>G (p.Pro50Ala)	SEPTIN9 (P32A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 325538	NM_001113491.2(SEPTIN9):c.158G>A (p.Arg53Gln)	SEPTIN9 (R35Q +3 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic neuralgia	GUncertain significance
Select item 3052371	NM_001113491.2(SEPTIN9):c.162C>G (p.Ala54=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	SEPTIN9-related condition	GLikely benign
Select item 2445572	NM_001113491.2(SEPTIN9):c.166G>A (p.Val56Met)	SEPTIN9 (V37M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682577	NM_001113491.2(SEPTIN9):c.175_177del (p.Ser59del)	SEPTIN9 (S40del +3 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1682578	NM_001113491.2(SEPTIN9):c.175T>C (p.Ser59Pro)	SEPTIN9 (S40P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 325540	NM_001113491.2(SEPTIN9):c.202G>A (p.Val68Met)	SEPTIN9 (V50M +3 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic neuralgia	GUncertain significance
Select item 2445470	NM_001113491.2(SEPTIN9):c.206A>G (p.Lys69Arg)	SEPTIN9 (K50R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1682579	NM_001113491.2(SEPTIN9):c.212C>T (p.Ser71Leu)	SEPTIN9 (S52L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 808319	NM_001113491.2(SEPTIN9):c.216A>G (p.Glu72=)	SEPTIN9	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
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

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