ClinVar for Gene (Select 161424) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300382	NM_174913.3(NOP9):c.1246G>A (p.Gly416Arg)	NOP9 (G416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300381	NM_174913.3(NOP9):c.1475A>G (p.His492Arg)	NOP9 (H492R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300380	NM_174913.3(NOP9):c.1603T>G (p.Ser535Ala)	NOP9 (S535A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300379	NM_174913.3(NOP9):c.1529C>T (p.Thr510Met)	NOP9 (T510M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271792	NM_001136050.3(DHRS1):c.578C>T (p.Pro193Leu)	DHRS1, NOP9 (P193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267351	NM_001393339.1(CIDEB):c.293G>A (p.Cys98Tyr)	CIDEB, NOP9 (C98Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3267350	NM_001393339.1(CIDEB):c.73C>T (p.Arg25Trp)	CIDEB, NOP9 (R25W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3267349	NM_001393339.1(CIDEB):c.247G>A (p.Ala83Thr)	CIDEB, NOP9 (A83T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3201272	NM_174913.3(NOP9):c.980C>T (p.Thr327Met)	NOP9 (T327M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201271	NM_174913.3(NOP9):c.892C>A (p.His298Asn)	NOP9 (H298N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201270	NM_174913.3(NOP9):c.872A>G (p.Lys291Arg)	NOP9 (K291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201269	NM_174913.3(NOP9):c.838T>C (p.Cys280Arg)	NOP9 (C280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201268	NM_174913.3(NOP9):c.362C>T (p.Pro121Leu)	NOP9 (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201267	NM_174913.3(NOP9):c.332A>G (p.Gln111Arg)	NOP9 (Q111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201266	NM_174913.3(NOP9):c.296C>T (p.Ala99Val)	NOP9 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201265	NM_174913.3(NOP9):c.248A>T (p.Asp83Val)	NOP9 (D83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201264	NM_174913.3(NOP9):c.1493C>T (p.Thr498Ile)	NOP9 (T498I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201263	NM_174913.3(NOP9):c.1432G>A (p.Ala478Thr)	NOP9 (A478T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201262	NM_174913.3(NOP9):c.1169G>A (p.Ser390Asn)	NOP9 (S390N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201261	NM_174913.3(NOP9):c.1081G>A (p.Ala361Thr)	NOP9 (A361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201260	NM_174913.3(NOP9):c.1052A>G (p.His351Arg)	NOP9 (H351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144985	NM_001393339.1(CIDEB):c.74G>A (p.Arg25Gln)	CIDEB, NOP9 (R25Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144984	NM_001393339.1(CIDEB):c.68T>C (p.Phe23Ser)	CIDEB, NOP9 (F23S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144983	NM_001393339.1(CIDEB):c.431G>A (p.Arg144Gln)	CIDEB, NOP9 (R144Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144982	NM_001393339.1(CIDEB):c.172G>A (p.Glu58Lys)	CIDEB, NOP9 (E58K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144981	NM_001393339.1(CIDEB):c.109C>A (p.Pro37Thr)	CIDEB, NOP9 (P37T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3082037	NM_001136050.3(DHRS1):c.850C>A (p.His284Asn)	DHRS1, NOP9 (H284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082036	NM_001136050.3(DHRS1):c.828G>T (p.Leu276Phe)	DHRS1, NOP9 (L276F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082035	NM_001136050.3(DHRS1):c.808C>T (p.Arg270Cys)	DHRS1, NOP9 (R270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082034	NM_001136050.3(DHRS1):c.785A>G (p.Tyr262Cys)	DHRS1, NOP9 (Y262C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082033	NM_001136050.3(DHRS1):c.62G>A (p.Arg21His)	DHRS1, LOC106799836 +1 more (R21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082032	NM_001136050.3(DHRS1):c.548G>A (p.Arg183His)	DHRS1, NOP9 (R183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082031	NM_001136050.3(DHRS1):c.367G>A (p.Gly123Arg)	DHRS1, NOP9 (G123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644135	NM_174913.3(NOP9):c.1389G>C (p.Gly463=)	NOP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592661	NM_174913.3(NOP9):c.1027A>G (p.Arg343Gly)	NOP9 (R343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589721	NM_001136050.3(DHRS1):c.607G>A (p.Glu203Lys)	DHRS1, NOP9 (E203K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588034	NM_001393339.1(CIDEB):c.188C>A (p.Ala63Glu)	CIDEB, NOP9 (A63E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2555698	NM_001136050.3(DHRS1):c.914T>C (p.Ile305Thr)	DHRS1, NOP9 (I305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548707	NM_174913.3(NOP9):c.114A>C (p.Gln38His)	NOP9 (Q38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523432	NM_001136050.3(DHRS1):c.563G>A (p.Cys188Tyr)	DHRS1, NOP9 (C188Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509641	NM_174913.3(NOP9):c.1475A>T (p.His492Leu)	NOP9 (H492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509487	NM_174913.3(NOP9):c.527C>T (p.Thr176Met)	NOP9 (T176M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490222	NM_001136050.3(DHRS1):c.905C>T (p.Pro302Leu)	DHRS1, NOP9 (P302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475074	NM_174913.3(NOP9):c.1718C>A (p.Ala573Asp)	NOP9 (A573D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472483	NM_001136050.3(DHRS1):c.899G>A (p.Arg300His)	DHRS1, NOP9 (R300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472408	NM_174913.3(NOP9):c.1624C>T (p.Arg542Cys)	NOP9 (R542C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470208	NM_001136050.3(DHRS1):c.55A>G (p.Ile19Val)	DHRS1, LOC106799836 +1 more (I19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458001	NM_001136050.3(DHRS1):c.523G>C (p.Ala175Pro)	DHRS1, NOP9 (A175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2408772	NM_001136050.3(DHRS1):c.461G>T (p.Ser154Ile)	DHRS1, NOP9 (S154I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400718	NM_174913.3(NOP9):c.140C>T (p.Ser47Leu)	NOP9 (S47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383985	NM_001136050.3(DHRS1):c.652C>G (p.Gln218Glu)	DHRS1, NOP9 (Q218E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381173	NM_174913.3(NOP9):c.1346T>C (p.Leu449Ser)	NOP9 (L449S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367660	NM_174913.3(NOP9):c.1834C>T (p.Arg612Trp)	NOP9 (R612W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2362214	NM_001393339.1(CIDEB):c.622G>A (p.Glu208Lys)	CIDEB, NOP9 (E208K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2353524	NM_174913.3(NOP9):c.1473G>C (p.Gln491His)	NOP9 (Q491H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338938	NM_001136050.3(DHRS1):c.529T>C (p.Cys177Arg)	DHRS1, NOP9 (C177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337715	NM_174913.3(NOP9):c.121C>T (p.Pro41Ser)	NOP9 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331859	NM_001136050.3(DHRS1):c.296C>T (p.Thr99Met)	DHRS1, NOP9 (T99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325175	NM_174913.3(NOP9):c.334G>C (p.Glu112Gln)	NOP9 (E112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324050	NM_174913.3(NOP9):c.1097A>G (p.Asn366Ser)	NOP9 (N366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320251	NM_001393339.1(CIDEB):c.116G>A (p.Arg39His)	CIDEB, NOP9 (R39H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310757	NM_174913.3(NOP9):c.868C>T (p.Arg290Cys)	NOP9 (R290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310633	NM_174913.3(NOP9):c.920T>C (p.Leu307Pro)	NOP9 (L307P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295653	NM_174913.3(NOP9):c.1621C>T (p.Arg541Cys)	NOP9 (R541C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293944	NM_001136050.3(DHRS1):c.479A>G (p.Asn160Ser)	DHRS1, NOP9 (N160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287056	NM_001136050.3(DHRS1):c.481G>A (p.Val161Ile)	DHRS1, NOP9 (V161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286863	NM_001393339.1(CIDEB):c.115C>T (p.Arg39Cys)	CIDEB, NOP9 (R39C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2282416	NM_174913.3(NOP9):c.1136C>T (p.Pro379Leu)	NOP9 (P379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280230	NM_001393339.1(CIDEB):c.521T>C (p.Val174Ala)	CIDEB, NOP9 (V124A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2275388	NM_174913.3(NOP9):c.925A>G (p.Thr309Ala)	NOP9 (T309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258371	NM_174913.3(NOP9):c.1070A>C (p.Gln357Pro)	NOP9 (Q357P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257207	NM_174913.3(NOP9):c.1069C>A (p.Gln357Lys)	NOP9 (Q357K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250822	NM_174913.3(NOP9):c.1835G>A (p.Arg612Gln)	NOP9 (R612Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2244197	NM_001393339.1(CIDEB):c.143G>A (p.Arg48Gln)	CIDEB, NOP9 (R48Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241558	NM_174913.3(NOP9):c.49G>A (p.Ala17Thr)	NOP9 (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239430	NM_001393339.1(CIDEB):c.607G>C (p.Ala203Pro)	CIDEB, NOP9 (A153P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2231907	NM_174913.3(NOP9):c.722A>T (p.Glu241Val)	NOP9 (E241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227097	NM_001393339.1(CIDEB):c.142C>T (p.Arg48Trp)	CIDEB, NOP9 (R48W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2226881	NM_174913.3(NOP9):c.396C>G (p.Asn132Lys)	NOP9 (N132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226376	NM_174913.3(NOP9):c.911T>C (p.Ile304Thr)	NOP9 (I304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218215	NM_174913.3(NOP9):c.41G>A (p.Arg14Gln)	NOP9 (R14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214611	NM_001393339.1(CIDEB):c.173A>G (p.Glu58Gly)	CIDEB, NOP9 (E58G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253943	GRCh37/hg19 14q12(chr14:24768556-24781268)x3	CIDEB, LTB4R +3 more	Copy number gain	See cases	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic

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