ClinVar for Gene (Select 23404) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276833	NM_014285.7(EXOSC2):c.417C>A (p.Asp139Glu)	EXOSC2 (D109E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276832	NM_014285.7(EXOSC2):c.796C>T (p.His266Tyr)	EXOSC2 (H266Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276831	NM_014285.7(EXOSC2):c.86C>T (p.Pro29Leu)	EXOSC2, LOC130002815 (P29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276830	NM_014285.7(EXOSC2):c.160G>C (p.Ala54Pro)	EXOSC2 (A54P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245345	NC_000009.11:g.(?_133540041)_(133761070_?)del	ABL1, EXOSC2 +1 more	Deletion	not provided	GUncertain significance
Select item 3245343	NC_000009.11:g.(?_133540041)_(133884994_?)dup	ABL1, EXOSC2 +4 more	Duplication	not provided	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3091191	NM_014285.7(EXOSC2):c.427G>T (p.Ala143Ser)	EXOSC2 (A113S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3005532	NM_014285.7(EXOSC2):c.751C>G (p.Leu251Val)	EXOSC2 (L221V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3005531	NM_014285.7(EXOSC2):c.569C>T (p.Pro190Leu)	EXOSC2 (P190L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3003575	NM_014285.7(EXOSC2):c.361-15C>T	EXOSC2, LOC130002816	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003041	NM_014285.7(EXOSC2):c.360+11C>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988404	NM_014285.7(EXOSC2):c.270+14C>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971512	NM_014285.7(EXOSC2):c.432G>A (p.Glu144=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971511	NM_014285.7(EXOSC2):c.414G>A (p.Gly138=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967282	NM_014285.7(EXOSC2):c.361-11G>A	EXOSC2, LOC130002816	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888555	NM_014285.7(EXOSC2):c.503_504del (p.Gln168fs)	EXOSC2 (Q168fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2846328	NM_014285.7(EXOSC2):c.427-10C>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841281	NM_014285.7(EXOSC2):c.87G>A (p.Pro29=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830326	NM_014285.7(EXOSC2):c.360+11C>A	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809197	NM_014285.7(EXOSC2):c.271-7C>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806950	NM_014285.7(EXOSC2):c.684T>C (p.Leu228=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2706487	NM_014285.7(EXOSC2):c.271-9G>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685365	GRCh37/hg19 9q34.11-34.12(chr9:132590008-133880465)x1	ABL1, ASS1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2527750	NM_014285.7(EXOSC2):c.797A>T (p.His266Leu)	EXOSC2 (H240L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2442149	NM_014285.7(EXOSC2):c.611G>A (p.Trp204Ter)	EXOSC2 (W174* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	GLikely pathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425934	NC_000009.11:g.(?_133578420)_(133579161_?)del	EXOSC2	Deletion	not provided	GUncertain significance
Select item 2332100	NM_014285.7(EXOSC2):c.34A>G (p.Lys12Glu)	EXOSC2 (K12E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311789	NM_014285.7(EXOSC2):c.97A>G (p.Ile33Val)	EXOSC2, LOC130002815 (I33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2189570	NM_014285.7(EXOSC2):c.878G>A (p.Gly293Glu)	EXOSC2 (G263E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2184045	NM_014285.7(EXOSC2):c.687T>C (p.Ala229=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2152728	NM_014285.7(EXOSC2):c.541C>T (p.Arg181Trp)	EXOSC2 (R151W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135811	NM_014285.7(EXOSC2):c.752T>C (p.Leu251Pro)	EXOSC2 (L221P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135154	NM_014285.7(EXOSC2):c.801+3A>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2133780	NM_014285.7(EXOSC2):c.663A>G (p.Ala221=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2132414	NM_014285.7(EXOSC2):c.194A>C (p.Lys65Thr)	EXOSC2 (K65T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2132360	NM_014285.7(EXOSC2):c.382G>A (p.Glu128Lys)	EXOSC2 (E128K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2117715	NM_014285.7(EXOSC2):c.554A>C (p.His185Pro)	EXOSC2 (H185P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108615	NM_014285.7(EXOSC2):c.451G>A (p.Asp151Asn)	EXOSC2 (D121N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2103854	NM_014285.7(EXOSC2):c.270+18T>C	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100433	NM_014285.7(EXOSC2):c.22C>T (p.Pro8Ser)	EXOSC2 (P8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2100348	NM_014285.7(EXOSC2):c.126C>T (p.Gly42=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2097867	NM_014285.7(EXOSC2):c.172G>C (p.Gly58Arg)	EXOSC2 (G58R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097002	NM_014285.7(EXOSC2):c.859_862del (p.Arg287fs)	EXOSC2 (R257fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2094156	NM_014285.7(EXOSC2):c.673-5T>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2093896	NM_014285.7(EXOSC2):c.847G>C (p.Glu283Gln)	EXOSC2 (E253Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2091037	NM_014285.7(EXOSC2):c.673-3T>C	EXOSC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2084125	NM_014285.7(EXOSC2):c.254T>C (p.Val85Ala)	EXOSC2 (V85A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079276	NM_014285.7(EXOSC2):c.713G>A (p.Arg238Gln)	EXOSC2 (R238Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077427	NM_014285.7(EXOSC2):c.648_649del (p.Gly218fs)	EXOSC2 (G192fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2069588	NM_014285.7(EXOSC2):c.156C>G (p.Leu52=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2062073	NM_014285.7(EXOSC2):c.596A>G (p.Asn199Ser)	EXOSC2 (N169S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052094	NM_014285.7(EXOSC2):c.31C>T (p.Arg11Cys)	EXOSC2 (R11C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049424	NM_014285.7(EXOSC2):c.160G>A (p.Ala54Thr)	EXOSC2 (A54T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2048070	NM_014285.7(EXOSC2):c.412G>A (p.Gly138Arg)	EXOSC2 (G108R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047868	NM_014285.7(EXOSC2):c.13A>G (p.Met5Val)	EXOSC2 (M5V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2041332	NM_014285.7(EXOSC2):c.271-1G>A	EXOSC2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2036553	NM_014285.7(EXOSC2):c.270+18T>A	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036148	NM_014285.7(EXOSC2):c.495+20T>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029023	NM_014285.7(EXOSC2):c.42T>G (p.Leu14=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2022858	NM_014285.7(EXOSC2):c.114A>G (p.Gly38=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2020977	NM_014285.7(EXOSC2):c.673-20C>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019360	NM_014285.7(EXOSC2):c.720C>T (p.Cys240=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2017097	NM_014285.7(EXOSC2):c.777_779del (p.Tyr260del)	EXOSC2 (Y230del +2 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2014337	NM_014285.7(EXOSC2):c.331dup (p.Ser111fs)	EXOSC2 (S111fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2013423	NM_014285.7(EXOSC2):c.23del (p.Pro8fs)	EXOSC2 (P8fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2009972	NM_014285.7(EXOSC2):c.427-19C>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2005742	NM_014285.7(EXOSC2):c.396A>G (p.Arg132=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2003327	NM_014285.7(EXOSC2):c.427-20T>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998391	NM_014285.7(EXOSC2):c.224+16G>A	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996023	NM_014285.7(EXOSC2):c.157A>G (p.Ile53Val)	EXOSC2 (I53V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970675	NM_014285.7(EXOSC2):c.37C>T (p.Pro13Ser)	EXOSC2 (P13S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970071	NM_014285.7(EXOSC2):c.672+11A>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968798	NM_014285.7(EXOSC2):c.407A>G (p.Gln136Arg)	EXOSC2 (Q106R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967366	NM_014285.7(EXOSC2):c.645A>G (p.Glu215=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1966338	NM_014285.7(EXOSC2):c.427-18C>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964223	NM_014285.7(EXOSC2):c.406C>T (p.Gln136Ter)	EXOSC2 (Q106* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1963563	NM_014285.7(EXOSC2):c.447C>T (p.Phe149=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1960368	NM_014285.7(EXOSC2):c.700A>G (p.Ile234Val)	EXOSC2 (I204V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959675	NM_014285.7(EXOSC2):c.270+5C>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1955245	NM_014285.7(EXOSC2):c.592G>A (p.Gly198Ser)	EXOSC2 (G198S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954443	NM_014285.7(EXOSC2):c.162A>T (p.Ala54=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948364	NM_014285.7(EXOSC2):c.672+3G>A	EXOSC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1944320	NM_014285.7(EXOSC2):c.592G>T (p.Gly198Cys)	EXOSC2 (G172C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931953	NM_014285.7(EXOSC2):c.21T>C (p.Leu7=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1926802	NM_014285.7(EXOSC2):c.68A>G (p.Lys23Arg)	EXOSC2, LOC130002815 (K23R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924198	NM_014285.7(EXOSC2):c.360+10A>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923773	NM_014285.7(EXOSC2):c.65C>G (p.Thr22Ser)	EXOSC2, LOC130002815 (T22S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1921942	NM_014285.7(EXOSC2):c.335C>G (p.Ser112Cys)	EXOSC2 (S112C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1921236	NM_014285.7(EXOSC2):c.122+2T>G	EXOSC2, LOC130002815	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1921112	NM_014285.7(EXOSC2):c.440C>T (p.Ala147Val)	EXOSC2 (A147V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919684	NM_014285.7(EXOSC2):c.271-20G>A	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918390	NM_014285.7(EXOSC2):c.321C>G (p.Val107=)	EXOSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1917572	NM_014285.7(EXOSC2):c.242G>C (p.Gly81Ala)	EXOSC2 (G81A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916834	NM_014285.7(EXOSC2):c.801+8C>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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