SNX14[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 148698	GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1	C6orf163, CGA +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 1194894	NM_153816.6(SNX14):c.*302G>A	SNX14	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1211032	NM_153816.6(SNX14):c.*252GA[1]	SNX14	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1205055	NM_153816.6(SNX14):c.*205C>T	SNX14	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2581358	NM_153816.6(SNX14):c.*14G>T	SNX14	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1937424	NM_153816.6(SNX14):c.2803-3T>G	SNX14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1276013	NM_153816.6(SNX14):c.2803-174G>A	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1935876	NM_153816.6(SNX14):c.2802+18A>C	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 419155	NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)	SNX14	Deletion (nonsense +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2573000	NM_153816.6(SNX14):c.2746-2A>G	SNX14	Single nucleotide variant (splice acceptor variant +1 more)	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic
Select item 2805877	NM_153816.6(SNX14):c.2746-26ATT[3]	SNX14	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1234172	NM_153816.6(SNX14):c.2746-72T>C	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226900	NM_153816.6(SNX14):c.2746-83A>G	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272162	NM_153816.6(SNX14):c.2745+238C>A	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208139	NM_153816.6(SNX14):c.2745+53G>A	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186804	NM_153816.6(SNX14):c.2745+53G>T	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988688	NM_153816.6(SNX14):c.2745+20G>A	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1990293	NM_153816.6(SNX14):c.2745+19C>G	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2472891	NM_153816.6(SNX14):c.2725C>G (p.Gln909Glu)	SNX14 (Q515E +19 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2037170	NM_153816.6(SNX14):c.2688G>A (p.Lys896=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1027832	NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser)	SNX14 (G837S +18 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 190320	NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)	SNX14	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2501981	NM_153816.6(SNX14):c.2654A>G (p.Asp885Gly)	SNX14 (D491G +19 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1246206	NM_153816.6(SNX14):c.2654-281dup	SNX14	Duplication (intron variant)	not provided	GBenign
Select item 1206587	NM_153816.6(SNX14):c.2654-262del	SNX14	Deletion (intron variant)	not provided	GLikely benign
Select item 1236227	NM_153816.6(SNX14):c.2653+205C>T	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220971	NM_153816.6(SNX14):c.2653+202A>G	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225358	NM_153816.6(SNX14):c.2653+47G>A	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2229730	NM_153816.6(SNX14):c.2637G>C (p.Met879Ile)	SNX14 (M529I +19 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2177702	NM_153816.6(SNX14):c.2636T>C (p.Met879Thr)	SNX14 (M731T +19 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2604088	NM_153816.6(SNX14):c.2617A>G (p.Lys873Glu)	SNX14 (K488E +19 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 190314	NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter)	SNX14 (Q866* +18 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 2176293	NM_153816.6(SNX14):c.2580T>A (p.Thr860=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1898485	NM_153816.6(SNX14):c.2558A>C (p.Asp853Ala)	SNX14 (D503A +19 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2193139	NM_153816.6(SNX14):c.2558-4T>G	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989710	NM_153816.6(SNX14):c.2557+16T>A	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422470	NM_153816.6(SNX14):c.2557+1G>A	SNX14	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 713083	NM_153816.6(SNX14):c.2532G>A (p.Leu844=)	SNX14	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 1335633	NM_153816.6(SNX14):c.2524C>T (p.His842Tyr)	SNX14 (H448Y +16 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2960120	NM_153816.6(SNX14):c.2481T>G (p.Thr827=)	SNX14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 548562	NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln)	SNX14 (R816Q +16 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 1997252	NM_153816.6(SNX14):c.2434T>C (p.Leu812=)	SNX14	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2096581	NM_153816.6(SNX14):c.2433C>T (p.Leu811=)	SNX14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 789509	NM_153816.6(SNX14):c.2412T>G (p.Val804=)	SNX14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1027831	NM_153816.6(SNX14):c.2410G>A (p.Val804Ile)	SNX14 (V410I +16 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 20 +1 more	GConflicting classifications of pathogenicity
Select item 1033174	NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp)	SNX14 (R651W +16 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive spinocerebellar ataxia 20 +1 more	GUncertain significance
Select item 1277902	NM_153816.6(SNX14):c.2393-101A>C	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2421834	NM_153816.6(SNX14):c.2364A>G (p.Glu788=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2761358	NM_153816.6(SNX14):c.2325G>A (p.Lys775=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2210169	NM_153816.6(SNX14):c.2314A>G (p.Thr772Ala)	SNX14 (T378A +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1713876	NM_153816.6(SNX14):c.2280T>G (p.Asp760Glu)	SNX14 (D366E +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2181536	NM_153816.6(SNX14):c.2269-8del	SNX14	Deletion (intron variant)	not provided	GBenign
Select item 1900682	NM_153816.6(SNX14):c.2269-12C>A	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193102	NM_153816.6(SNX14):c.2269-167C>T	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217998	NM_153816.6(SNX14):c.2268+31G>A	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016033	NM_153816.6(SNX14):c.2267A>G (p.Lys756Arg)	SNX14 (K656R +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309016	NM_153816.6(SNX14):c.2259CAA[1] (p.Asn754del)	SNX14 (N360del +16 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2068333	NM_153816.6(SNX14):c.2261A>G (p.Asn754Ser)	SNX14 (N360S +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2166147	NM_153816.6(SNX14):c.2176A>G (p.Met726Val)	SNX14 (M341V +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700475	NM_153816.6(SNX14):c.2149-4del	SNX14	Deletion (intron variant)	not provided	GUncertain significance
Select item 2573004	NM_153816.6(SNX14):c.2148+1G>T	SNX14	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 1253280	NM_153816.6(SNX14):c.2108-113T>C	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3026536	NM_153816.6(SNX14):c.2108-3655_2108-3635del	SNX14	Deletion (intron variant)	not provided	GUncertain significance
Select item 1924226	NM_153816.6(SNX14):c.2095G>A (p.Asp699Asn)	SNX14 (D603N +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656733	NM_153816.6(SNX14):c.2004G>A (p.Leu668=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989055	NM_153816.6(SNX14):c.1996-12dup	SNX14	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2983146	NM_153816.6(SNX14):c.1996-20G>A	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268462	NM_153816.6(SNX14):c.1996-233G>T	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263068	NM_153816.6(SNX14):c.1995+183T>C	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276965	NM_153816.6(SNX14):c.1995+181C>T	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1897951	NM_153816.6(SNX14):c.1995+20_1995+23del	SNX14	Deletion (intron variant)	not provided	GBenign
Select item 727831	NM_153816.6(SNX14):c.1995+5A>T	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2047228	NM_153816.6(SNX14):c.1939C>T (p.Pro647Ser)	SNX14 (P499S +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2616148	NM_153816.6(SNX14):c.1903C>T (p.Pro635Ser)	SNX14 (P538S +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2181944	NM_153816.6(SNX14):c.1898C>T (p.Ala633Val)	SNX14 (A485V +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 598676	NM_153816.6(SNX14):c.1897_1898delinsTT (p.Ala633Leu)	SNX14 (A485L +16 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1968017	NM_153816.6(SNX14):c.1895-11A>G	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248879	NM_153816.6(SNX14):c.1895-22C>A	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190449	NM_153816.6(SNX14):c.1894+43G>A	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 190317	NM_153816.6(SNX14):c.1894+1G>T	SNX14	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 2572991	NM_153816.6(SNX14):c.1878del (p.Lys626fs)	SNX14 (K232fs +16 more)	Deletion (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 20	GPathogenic
Select item 1329713	NM_153816.6(SNX14):c.1832G>C (p.Trp611Ser)	SNX14 (W217S +16 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3058370	NM_153816.6(SNX14):c.1818C>T (p.His606=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	SNX14-related condition	GLikely benign
Select item 1289642	NM_153816.6(SNX14):c.1811-15G>A	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1677996	NM_153816.6(SNX14):c.1811-31G>A	SNX14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1239754	NM_153816.6(SNX14):c.1811-154C>T	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255355	NM_153816.6(SNX14):c.1811-229C>G	SNX14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196803	NM_153816.6(SNX14):c.1810+254A>G	SNX14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961270	NM_153816.6(SNX14):c.1810+14T>G	SNX14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 800741	NM_153816.6(SNX14):c.1809A>G (p.Ala603=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 20 +1 more	GUncertain significance
Select item 3047177	NM_153816.6(SNX14):c.1800T>C (p.Asp600=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	SNX14-related condition	GLikely benign
Select item 2175043	NM_153816.6(SNX14):c.1791A>G (p.Glu597=)	SNX14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2185636	NM_153816.6(SNX14):c.1781T>C (p.Ile594Thr)	SNX14 (I446T +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817573	NM_153816.6(SNX14):c.1725dup (p.Glu576Ter)	SNX14 (E226* +16 more)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 800777	NM_153816.6(SNX14):c.1725del (p.Phe575fs)	SNX14 (F181fs +16 more)	Deletion (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 20	GLikely pathogenic

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