ClinVar for Gene (Select 23054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184254	NM_014071.5(NCOA6):c.914A>G (p.Gln305Arg)	NCOA6 (Q305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184240	NM_014071.5(NCOA6):c.5936C>T (p.Ala1979Val)	NCOA6 (A986V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184236	NM_014071.5(NCOA6):c.5897C>T (p.Pro1966Leu)	NCOA6 (P1966L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184219	NM_014071.5(NCOA6):c.5792C>T (p.Pro1931Leu)	NCOA6 (P1931L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184217	NM_014071.5(NCOA6):c.5785G>A (p.Ala1929Thr)	NCOA6 (A1929T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3184213	NM_014071.5(NCOA6):c.5767C>A (p.Pro1923Thr)	NCOA6 (P1923T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184202	NM_014071.5(NCOA6):c.548T>C (p.Met183Thr)	NCOA6 (M183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184195	NM_014071.5(NCOA6):c.5414G>A (p.Gly1805Asp)	NCOA6 (G1805D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184191	NM_014071.5(NCOA6):c.5263C>G (p.Pro1755Ala)	NCOA6 (P1755A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184184	NM_014071.5(NCOA6):c.5203A>G (p.Ser1735Gly)	NCOA6 (S1735G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184169	NM_014071.5(NCOA6):c.4610T>C (p.Leu1537Pro)	NCOA6 (L1537P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3184165	NM_014071.5(NCOA6):c.4387C>A (p.Gln1463Lys)	NCOA6 (Q1463K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184162	NM_014071.5(NCOA6):c.4360C>T (p.Pro1454Ser)	NCOA6 (P1454S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184138	NM_014071.5(NCOA6):c.3166C>T (p.Pro1056Ser)	NCOA6 (P1056S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184127	NM_014071.5(NCOA6):c.2987C>T (p.Pro996Leu)	NCOA6 (P996L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184115	NM_014071.5(NCOA6):c.2807G>A (p.Arg936His)	NCOA6 (R936H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184101	NM_014071.5(NCOA6):c.2525C>T (p.Ser842Leu)	NCOA6 (S842L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184098	NM_014071.5(NCOA6):c.2492C>A (p.Pro831His)	NCOA6 (P831H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184082	NM_014071.5(NCOA6):c.2213C>T (p.Pro738Leu)	NCOA6 (P738L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184074	NM_014071.5(NCOA6):c.2199G>C (p.Gln733His)	NCOA6 (Q733H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184072	NM_014071.5(NCOA6):c.2171A>G (p.Asn724Ser)	NCOA6 (N724S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184062	NM_014071.5(NCOA6):c.2045A>C (p.Gln682Pro)	NCOA6 (Q682P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184045	NM_014071.5(NCOA6):c.1690G>A (p.Gly564Ser)	NCOA6 (G564S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184039	NM_014071.5(NCOA6):c.1555T>C (p.Phe519Leu)	NCOA6 (F519L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184022	NM_014071.5(NCOA6):c.1057A>G (p.Met353Val)	NCOA6 (M353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184020	NM_014071.5(NCOA6):c.1051G>T (p.Gly351Cys)	NCOA6 (G351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622154	NM_014071.5(NCOA6):c.5230C>T (p.Pro1744Ser)	NCOA6 (P1744S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619542	NM_014071.5(NCOA6):c.4816A>G (p.Ile1606Val)	NCOA6 (I1606V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608786	NM_014071.5(NCOA6):c.1997C>G (p.Pro666Arg)	NCOA6 (P666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607784	NM_014071.5(NCOA6):c.3484A>G (p.Met1162Val)	NCOA6 (M1162V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559962	NM_014071.5(NCOA6):c.5429C>T (p.Pro1810Leu)	NCOA6 (P1810L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556960	NM_014071.5(NCOA6):c.3617C>T (p.Thr1206Ile)	NCOA6 (T1206I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556318	NM_014071.5(NCOA6):c.37T>C (p.Tyr13His)	NCOA6 (Y13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555455	NM_014071.5(NCOA6):c.2297T>C (p.Met766Thr)	NCOA6 (M766T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551797	NM_014071.5(NCOA6):c.151G>A (p.Ala51Thr)	NCOA6 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550734	NM_014071.5(NCOA6):c.2209A>G (p.Met737Val)	NCOA6 (M737V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545414	NM_014071.5(NCOA6):c.2717A>G (p.Gln906Arg)	NCOA6 (Q906R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539884	NM_014071.5(NCOA6):c.1051G>A (p.Gly351Ser)	NCOA6 (G351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535912	NM_014071.5(NCOA6):c.2447A>T (p.Gln816Leu)	NCOA6 (Q816L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523430	NM_014071.5(NCOA6):c.5161A>G (p.Ser1721Gly)	NCOA6 (S1721G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523313	NM_014071.5(NCOA6):c.4021A>G (p.Thr1341Ala)	NCOA6 (T1341A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516531	NM_014071.5(NCOA6):c.722A>G (p.His241Arg)	NCOA6 (H241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514686	NM_014071.5(NCOA6):c.3013C>T (p.Pro1005Ser)	NCOA6 (P1005S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508735	NM_014071.5(NCOA6):c.4627C>A (p.Pro1543Thr)	NCOA6 (P1543T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495776	NM_014071.5(NCOA6):c.6020T>C (p.Val2007Ala)	NCOA6 (V2007A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485700	NM_014071.5(NCOA6):c.6017T>G (p.Ile2006Arg)	NCOA6 (I2006R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480453	NM_014071.5(NCOA6):c.3961A>G (p.Thr1321Ala)	NCOA6 (T1321A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464383	NM_014071.5(NCOA6):c.3148G>A (p.Val1050Ile)	NCOA6 (V1050I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461463	NM_014071.5(NCOA6):c.5687C>T (p.Pro1896Leu)	NCOA6 (P1896L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411162	NM_014071.5(NCOA6):c.1727C>T (p.Pro576Leu)	NCOA6 (P576L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410842	NM_014071.5(NCOA6):c.3872C>G (p.Thr1291Ser)	NCOA6 (T1291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404555	NM_014071.5(NCOA6):c.1577C>T (p.Pro526Leu)	NCOA6 (P526L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404545	NM_014071.5(NCOA6):c.1571C>G (p.Ala524Gly)	NCOA6 (A524G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393133	NM_014071.5(NCOA6):c.1997C>T (p.Pro666Leu)	NCOA6 (P666L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383239	NM_014071.5(NCOA6):c.800A>G (p.Gln267Arg)	NCOA6 (Q267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382953	NM_014071.5(NCOA6):c.727A>G (p.Met243Val)	NCOA6 (M243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379344	NM_014071.5(NCOA6):c.5807A>T (p.Asn1936Ile)	NCOA6 (N1936I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378960	NM_014071.5(NCOA6):c.2389A>G (p.Met797Val)	NCOA6 (M797V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366500	NM_014071.5(NCOA6):c.2906G>A (p.Arg969Gln)	NCOA6 (R969Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365604	NM_014071.5(NCOA6):c.4711G>C (p.Val1571Leu)	NCOA6 (V1571L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363365	NM_014071.5(NCOA6):c.2078C>T (p.Ala693Val)	NCOA6 (A693V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347345	NM_014071.5(NCOA6):c.4297A>T (p.Arg1433Trp)	NCOA6 (R1433W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341835	NM_014071.5(NCOA6):c.116G>A (p.Ser39Asn)	NCOA6 (S39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332155	NM_014071.5(NCOA6):c.1934A>G (p.Gln645Arg)	NCOA6 (Q645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332002	NM_014071.5(NCOA6):c.6044G>A (p.Arg2015Gln)	NCOA6 (R1022Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327592	NM_014071.5(NCOA6):c.2825A>C (p.Glu942Ala)	NCOA6 (E942A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308447	NM_014071.5(NCOA6):c.1113C>A (p.His371Gln)	NCOA6 (H371Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302156	NM_014071.5(NCOA6):c.5165C>T (p.Pro1722Leu)	NCOA6 (P1722L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297537	NM_014071.5(NCOA6):c.2730C>G (p.Asn910Lys)	NCOA6 (N910K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292087	NM_014071.5(NCOA6):c.4279T>A (p.Cys1427Ser)	NCOA6 (C1427S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284149	NM_014071.5(NCOA6):c.3985A>T (p.Ser1329Cys)	NCOA6 (S1329C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275995	NM_014071.5(NCOA6):c.3385A>G (p.Met1129Val)	NCOA6 (M1129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270396	NM_014071.5(NCOA6):c.5837C>T (p.Ala1946Val)	NCOA6 (A1946V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256129	NM_014071.5(NCOA6):c.996G>T (p.Gln332His)	NCOA6 (Q332H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245340	NM_014071.5(NCOA6):c.5738G>T (p.Ser1913Ile)	NCOA6 (S1913I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245137	NM_014071.5(NCOA6):c.1561G>T (p.Ala521Ser)	NCOA6 (A521S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237902	NM_014071.5(NCOA6):c.2387A>C (p.His796Pro)	NCOA6 (H796P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232134	NM_014071.5(NCOA6):c.2296A>G (p.Met766Val)	NCOA6 (M766V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232133	NM_014071.5(NCOA6):c.2204A>T (p.Asn735Ile)	NCOA6 (N735I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229115	NM_014071.5(NCOA6):c.1588C>A (p.Gln530Lys)	NCOA6 (Q530K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228524	NM_014071.5(NCOA6):c.3368G>C (p.Ser1123Thr)	NCOA6 (S1123T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228075	NM_014071.5(NCOA6):c.5095C>T (p.Pro1699Ser)	NCOA6 (P1699S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227072	NM_014071.5(NCOA6):c.3094C>A (p.Gln1032Lys)	NCOA6 (Q1032K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218964	NM_014071.5(NCOA6):c.582G>T (p.Met194Ile)	NCOA6 (M194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218031	NM_014071.5(NCOA6):c.122G>C (p.Ser41Thr)	NCOA6 (S41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215408	NM_014071.5(NCOA6):c.4654A>G (p.Ser1552Gly)	NCOA6 (S1552G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213564	NM_014071.5(NCOA6):c.5743C>T (p.Arg1915Cys)	NCOA6 (R1915C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212906	NM_014071.5(NCOA6):c.4550C>T (p.Pro1517Leu)	NCOA6 (P1517L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208010	NM_014071.5(NCOA6):c.2156A>G (p.Asn719Ser)	NCOA6 (N719S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207797	NM_014071.5(NCOA6):c.1901A>T (p.Gln634Leu)	NCOA6 (Q634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1275560	NM_014071.5(NCOA6):c.2247A>G (p.Pro749=)	NCOA6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 800225	NM_014071.5(NCOA6):c.556C>T (p.Pro186Ser)	NCOA6 (P186S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 767097	NM_014071.5(NCOA6):c.807GCA[7] (p.Gln285del)	NCOA6 (Q285del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 743228	NM_014071.5(NCOA6):c.4923T>C (p.Ser1641=)	NCOA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 727500	NM_014071.5(NCOA6):c.4614T>C (p.Ser1538=)	NCOA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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