ClinVar for Gene (Select 11340) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 149

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	GUncertain significance
Select item 3244195	NC_000013.10:g.(?_37393495)_(37583436_?)del	ALG5, EXOSC8 +2 more	Deletion	MHC class II deficiency	GPathogenic
Select item 3242109	NM_181503.3(EXOSC8):c.17+5del	EXOSC8, LOC130009581	Deletion (intron variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 3238835	NM_181503.3(EXOSC8):c.628C>A (p.Pro210Thr)	EXOSC8 (P210T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 3091223	NM_181503.3(EXOSC8):c.104C>T (p.Thr35Ile)	EXOSC8 (T35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ZC3H13, AKAP11 +119 more	Copy number loss	not provided	GPathogenic
Select item 3022161	NM_181503.3(EXOSC8):c.488-19C>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995779	NM_181503.3(EXOSC8):c.207A>G (p.Pro69=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985092	NM_181503.3(EXOSC8):c.236T>C (p.Val79Ala)	EXOSC8 (V79A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956773	NM_181503.3(EXOSC8):c.608+10T>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918014	NM_181503.3(EXOSC8):c.266G>A (p.Cys89Tyr)	EXOSC8 (C89Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902870	NM_181503.3(EXOSC8):c.795G>C (p.Leu265=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2846422	NM_181503.3(EXOSC8):c.541_543del (p.Leu181del)	EXOSC8 (L181del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2808798	NM_181503.3(EXOSC8):c.28C>T (p.Pro10Ser)	EXOSC8 (P10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794334	NM_181503.3(EXOSC8):c.216T>A (p.Asp72Glu)	EXOSC8 (D72E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775737	NM_181503.3(EXOSC8):c.609-19del	EXOSC8	Deletion (intron variant)	not provided	GLikely benign
Select item 2761966	NM_181503.3(EXOSC8):c.822A>T (p.Lys274Asn)	EXOSC8 (K274N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723355	NM_181503.3(EXOSC8):c.192+8dup	EXOSC8	Duplication (intron variant)	not provided	GLikely benign
Select item 2721209	NM_181503.3(EXOSC8):c.736G>A (p.Ala246Thr)	EXOSC8 (A246T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684700	GRCh37/hg19 13q13.3(chr13:37267058-37979438)x3	ALG5, CSNK1A1L +5 more	Copy number gain	not provided	GUncertain significance
Select item 2599392	NM_181503.3(EXOSC8):c.761G>A (p.Arg254Gln)	EXOSC8 (R254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495234	NM_181503.3(EXOSC8):c.824C>T (p.Pro275Leu)	EXOSC8 (P275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441309	NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)	EXOSC8 (P81S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 2346167	NM_181503.3(EXOSC8):c.460T>C (p.Phe154Leu)	EXOSC8 (F154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335152	NM_181503.3(EXOSC8):c.815G>T (p.Ser272Ile)	EXOSC8 (S272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328413	NM_181503.3(EXOSC8):c.7G>T (p.Ala3Ser)	EXOSC8 (A3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261988	NM_181503.3(EXOSC8):c.488T>C (p.Val163Ala)	EXOSC8 (V163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232172	NM_181503.3(EXOSC8):c.166A>G (p.Thr56Ala)	EXOSC8 (T56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211128	NM_181503.3(EXOSC8):c.766G>T (p.Val256Phe)	EXOSC8 (V256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2189873	NM_181503.3(EXOSC8):c.133G>A (p.Ala45Thr)	EXOSC8 (A45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185125	NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)	EXOSC8 (N180fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2171435	NM_181503.3(EXOSC8):c.45_47del (p.Arg16del)	EXOSC8 (R16del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2134850	NM_181503.3(EXOSC8):c.309A>G (p.Gln103=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107932	NM_181503.3(EXOSC8):c.609-19T>A	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100067	NM_181503.3(EXOSC8):c.484A>G (p.Asn162Asp)	EXOSC8 (N162D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094265	NM_181503.3(EXOSC8):c.487+20del	EXOSC8	Deletion (intron variant)	not provided	GLikely benign
Select item 2085440	NM_181503.3(EXOSC8):c.427G>A (p.Asp143Asn)	EXOSC8 (D143N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2084877	NM_181503.3(EXOSC8):c.605A>T (p.Asp202Val)	EXOSC8 (D202V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081448	NM_181503.3(EXOSC8):c.508A>G (p.Ile170Val)	EXOSC8 (I170V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2051061	NM_181503.3(EXOSC8):c.569G>A (p.Arg190Lys)	EXOSC8 (R190K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023100	NM_181503.3(EXOSC8):c.316A>C (p.Ser106Arg)	EXOSC8 (S106R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022521	NM_181503.3(EXOSC8):c.281G>A (p.Arg94Gln)	EXOSC8 (R94Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020979	NM_181503.3(EXOSC8):c.535G>T (p.Val179Phe)	EXOSC8 (V179F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016828	NM_181503.3(EXOSC8):c.260C>A (p.Pro87His)	EXOSC8 (P87H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2016761	NM_181503.3(EXOSC8):c.251A>G (p.Asp84Gly)	EXOSC8 (D84G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015023	NM_181503.3(EXOSC8):c.244A>G (p.Asn82Asp)	EXOSC8 (N82D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014142	NM_181503.3(EXOSC8):c.453C>G (p.Ala151=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992101	NM_181503.3(EXOSC8):c.609-16T>A	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991130	NM_181503.3(EXOSC8):c.239-19T>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990024	NM_181503.3(EXOSC8):c.118+11A>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975659	NM_181503.3(EXOSC8):c.224A>T (p.Asp75Val)	EXOSC8 (D75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962705	NM_181503.3(EXOSC8):c.609-6T>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939081	NM_181503.3(EXOSC8):c.263T>C (p.Leu88Pro)	EXOSC8 (L88P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931846	NM_181503.3(EXOSC8):c.192+5G>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1928355	NM_181503.3(EXOSC8):c.169A>G (p.Thr57Ala)	EXOSC8 (T57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926056	NM_181503.3(EXOSC8):c.193-15T>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1925204	NM_181503.3(EXOSC8):c.802G>A (p.Glu268Lys)	EXOSC8 (E268K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921827	NM_181503.3(EXOSC8):c.17+7G>A	EXOSC8, LOC130009581	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920946	NM_181503.3(EXOSC8):c.327T>A (p.Ile109=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920275	NM_181503.3(EXOSC8):c.234C>T (p.Tyr78=)	EXOSC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914281	NM_181503.3(EXOSC8):c.54+15_54+16insATAA	EXOSC8	Insertion (intron variant)	not provided	GLikely benign
Select item 1904238	NM_181503.3(EXOSC8):c.211A>G (p.Thr71Ala)	EXOSC8 (T71A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1901485	NM_181503.3(EXOSC8):c.473C>T (p.Ala158Val)	EXOSC8 (A158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900538	NM_181503.3(EXOSC8):c.345-12C>T	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897696	NM_181503.3(EXOSC8):c.54+20A>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809134	GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1	ALG5, CCDC169 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808770	GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3	ALG5, CCDC169 +26 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527765	GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1	ALG5, CCDC169 +15 more	Copy number loss	not specified	GPathogenic
Select item 1527763	GRCh37/hg19 13q13.3(chr13:35531798-39607778)	ALG5, CCDC169 +19 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340435	GRCh37/hg19 13q13.3(chr13:37464566-38493263)x3	ALG5, CSNK1A1L +5 more	Copy number gain	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1312898	NM_181503.3(EXOSC8):c.609-3T>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1312897	NM_181503.3(EXOSC8):c.2T>G (p.Met1Arg)	EXOSC8 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1295035	NC_000013.11:g.37000363del	EXOSC8	Deletion	not provided	GBenign
Select item 1290588	NC_000013.11:g.37000577C>T	EXOSC8, LOC130009580	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1275077	NC_000013.11:g.37000362_37000363del	EXOSC8	Deletion	not provided	GBenign
Select item 1269808	NM_181503.3(EXOSC8):c.239-35dup	EXOSC8	Duplication (intron variant)	not provided	GBenign
Select item 1259426	NC_000013.11:g.37000571G>A	EXOSC8, LOC130009580	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1243101	NC_000013.11:g.37000544C>T	EXOSC8, LOC130009580	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1242349	NM_181503.3(EXOSC8):c.391-61T>G	EXOSC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238926	NC_000013.11:g.37000341T>C	EXOSC8	Single nucleotide variant	not provided	GBenign
Select item 1230425	NM_181503.3(EXOSC8):c.608+93_608+95del	EXOSC8	Deletion (intron variant)	not provided	GBenign
Select item 1223887	NM_181503.3(EXOSC8):c.193-83A>C	EXOSC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175846	NM_181503.3(EXOSC8):c.11G>C (p.Gly4Ala)	EXOSC8, LOC130009581 (G4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 1027899	NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)	LOC130009581, EXOSC8 (F5L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1027469	NM_181503.3(EXOSC8):c.269C>G (p.Ser90Ter)	EXOSC8 (S90*)	Single nucleotide variant (nonsense)	Spastic ataxia	GPathogenic
Select item 870727	NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)	EXOSC8 (A246fs)	Duplication (frameshift variant)	Pontocerebellar hypoplasia, type 1C +1 more	GConflicting classifications of pathogenicity
Select item 870726	NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)	EXOSC8 (G30del)	Deletion (inframe_deletion)	Pontocerebellar hypoplasia, type 1C +1 more	GConflicting classifications of pathogenicity
Select item 813915	NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)	EXOSC8 (L232P)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance
Select item 813914	NM_181503.3(EXOSC8):c.17+1G>T	EXOSC8, LOC130009581	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 1C	GUncertain significance

<< First< Prev

Page of 2