2324[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 58435	GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3	MIR6893, MIR939 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2217047	NM_013291.3(CPSF1):c.4307C>T (p.Thr1436Met)	CPSF1 (T1436M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595069	NM_013291.3(CPSF1):c.4282A>G (p.Ile1428Val)	CPSF1 (I1428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076878	NM_013291.3(CPSF1):c.4207C>A (p.Leu1403Met)	CPSF1 (L1403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076877	NM_013291.3(CPSF1):c.4189A>C (p.Asn1397His)	CPSF1 (N1397H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 829510	NM_013291.3(CPSF1):c.4146-2A>G	CPSF1	Single nucleotide variant (splice acceptor variant)	Myopia 27	GPathogenic
Select item 3046823	NM_013291.3(CPSF1):c.4146-7_4146-6del	CPSF1	Deletion (intron variant)	CPSF1-related disorder	GLikely benign
Select item 2279374	NM_013291.3(CPSF1):c.4123G>A (p.Gly1375Ser)	CPSF1 (G1375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076875	NM_013291.3(CPSF1):c.4107G>A (p.Met1369Ile)	CPSF1 (M1369I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076873	NM_013291.3(CPSF1):c.3955G>A (p.Ala1319Thr)	CPSF1 (A1319T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2512854	NM_013291.3(CPSF1):c.3910G>T (p.Val1304Leu)	CPSF1 (V1304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480057	NM_013291.3(CPSF1):c.3910G>A (p.Val1304Met)	CPSF1 (V1304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063627	NM_013291.3(CPSF1):c.3893G>A (p.Arg1298His)	CPSF1 (R1298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269272	NM_013291.3(CPSF1):c.3874G>A (p.Gly1292Arg)	CPSF1 (G1292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 829512	NM_013291.3(CPSF1):c.3823G>T (p.Asp1275Tyr)	CPSF1, MIR939 (D1275Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopia 27	GPathogenic
Select item 2607351	NM_013291.3(CPSF1):c.3712G>A (p.Glu1238Lys)	CPSF1 (E1238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286013	NM_013291.3(CPSF1):c.3674C>T (p.Ala1225Val)	CPSF1 (A1225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550892	NM_013291.3(CPSF1):c.3663C>G (p.Phe1221Leu)	CPSF1 (F1221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076872	NM_013291.3(CPSF1):c.3652G>A (p.Val1218Ile)	CPSF1 (V1218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035139	NM_013291.3(CPSF1):c.3519C>T (p.Thr1173=)	CPSF1	Single nucleotide variant (synonymous variant)	CPSF1-related disorder	GLikely benign
Select item 2546891	NM_013291.3(CPSF1):c.3349C>A (p.Leu1117Ile)	CPSF1 (L1117I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298476	NM_013291.3(CPSF1):c.3216G>C (p.Glu1072Asp)	CPSF1 (E1072D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314795	NM_013291.3(CPSF1):c.3146G>A (p.Arg1049His)	CPSF1 (R1049H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348172	NM_013291.3(CPSF1):c.3127C>T (p.Pro1043Ser)	CPSF1 (P1043S)	Single nucleotide variant (missense variant)	CPSF1-related disorder	GUncertain significance
Select item 3076871	NM_013291.3(CPSF1):c.3125C>T (p.Thr1042Met)	CPSF1 (T1042M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076870	NM_013291.3(CPSF1):c.3082C>T (p.His1028Tyr)	CPSF1 (H1028Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354639	NM_013291.3(CPSF1):c.3062C>T (p.Thr1021Met)	CPSF1 (T1021M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560282	NM_013291.3(CPSF1):c.3016T>C (p.Ser1006Pro)	CPSF1 (S1006P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347372	NM_013291.3(CPSF1):c.2972_2974del (p.Asn991del)	CPSF1 (N991del)	Deletion (inframe_deletion)	CPSF1-related disorder	GUncertain significance
Select item 2409501	NM_013291.3(CPSF1):c.2954G>A (p.Arg985His)	CPSF1 (R985H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455617	NM_013291.3(CPSF1):c.2953C>T (p.Arg985Cys)	CPSF1 (R985C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477172	NM_013291.3(CPSF1):c.2923T>C (p.Phe975Leu)	CPSF1 (F975L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076869	NM_013291.3(CPSF1):c.2897T>C (p.Met966Thr)	CPSF1 (M966T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338924	NM_013291.3(CPSF1):c.2894C>T (p.Pro965Leu)	CPSF1 (P965L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544786	NM_013291.3(CPSF1):c.2869G>C (p.Gly957Arg)	CPSF1 (G957R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076868	NM_013291.3(CPSF1):c.2868C>T (p.Thr956=)	CPSF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2510981	NM_013291.3(CPSF1):c.2843C>T (p.Pro948Leu)	CPSF1 (P948L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529127	NM_013291.3(CPSF1):c.2839G>A (p.Gly947Ser)	CPSF1 (G947S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 829516	NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs)	CPSF1 (V943fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 3269265	NM_013291.3(CPSF1):c.2780G>A (p.Arg927His)	CPSF1 (R927H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076867	NM_013291.3(CPSF1):c.2773C>T (p.Arg925Trp)	CPSF1 (R925W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350548	NM_013291.3(CPSF1):c.2752G>A (p.Ala918Thr)	CPSF1 (A918T)	Single nucleotide variant (missense variant)	CPSF1-related disorder	GLikely benign
Select item 3269269	NM_013291.3(CPSF1):c.2729A>T (p.Lys910Met)	CPSF1 (K910M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076866	NM_013291.3(CPSF1):c.2726C>G (p.Ser909Cys)	CPSF1 (S909C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241186	NM_013291.3(CPSF1):c.2704C>A (p.Arg902Ser)	CPSF1 (R902S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381071	NM_013291.3(CPSF1):c.2636A>G (p.His879Arg)	CPSF1 (H879R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341305	NM_013291.3(CPSF1):c.2569C>T (p.Arg857Cys)	CPSF1 (R857C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1074846	NM_013291.3(CPSF1):c.2524dup (p.Glu842fs)	CPSF1 (E842fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2302133	NM_013291.3(CPSF1):c.2516G>A (p.Arg839His)	CPSF1 (R839H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347084	NM_013291.3(CPSF1):c.2513C>T (p.Thr838Met)	CPSF1 (T838M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613901	NM_013291.3(CPSF1):c.2440G>C (p.Gly814Arg)	CPSF1 (G814R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269267	NM_013291.3(CPSF1):c.2437G>A (p.Val813Met)	CPSF1 (V813M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386309	NM_013291.3(CPSF1):c.2414T>C (p.Val805Ala)	CPSF1 (V805A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076865	NM_013291.3(CPSF1):c.2407C>T (p.Arg803Trp)	CPSF1 (R803W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368411	NM_013291.3(CPSF1):c.2365C>T (p.Arg789Trp)	CPSF1 (R789W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076864	NM_013291.3(CPSF1):c.2354G>A (p.Cys785Tyr)	CPSF1 (C785Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317080	NM_013291.3(CPSF1):c.2332C>T (p.Arg778Trp)	CPSF1 (R778W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482976	NM_013291.3(CPSF1):c.2324C>T (p.Ala775Val)	CPSF1 (A775V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308860	NM_013291.3(CPSF1):c.2320C>T (p.Pro774Ser)	CPSF1 (P774S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206191	NM_013291.3(CPSF1):c.2314C>T (p.Arg772Trp)	CPSF1 (R772W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076863	NM_013291.3(CPSF1):c.2282A>C (p.Glu761Ala)	CPSF1 (E761A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341747	NM_013291.3(CPSF1):c.2262C>T (p.Leu754=)	CPSF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393234	NM_013291.3(CPSF1):c.2260C>T (p.Leu754Phe)	CPSF1 (L754F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358326	NM_013291.3(CPSF1):c.2249A>G (p.Asp750Gly)	CPSF1 (D750G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076862	NM_013291.3(CPSF1):c.2226C>G (p.Asp742Glu)	CPSF1 (D742E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299998	NM_013291.3(CPSF1):c.2171_2177del (p.Arg724fs)	CPSF1 (R724fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1300001	NM_013291.3(CPSF1):c.2163_2164del (p.Gly723fs)	CPSF1 (G723fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3352164	NM_013291.3(CPSF1):c.2143G>A (p.Gly715Ser)	CPSF1 (G715S)	Single nucleotide variant (missense variant)	CPSF1-related disorder	GLikely benign
Select item 2401357	NM_013291.3(CPSF1):c.2137C>T (p.Arg713Cys)	CPSF1 (R713C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412377	NM_013291.3(CPSF1):c.2116G>A (p.Gly706Ser)	CPSF1 (G706S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076861	NM_013291.3(CPSF1):c.2105G>A (p.Arg702Gln)	CPSF1 (R702Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218367	NM_013291.3(CPSF1):c.2082G>C (p.Lys694Asn)	CPSF1 (K694N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076860	NM_013291.3(CPSF1):c.2063C>T (p.Pro688Leu)	CPSF1 (P688L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328498	NM_013291.3(CPSF1):c.2058G>T (p.Lys686Asn)	CPSF1 (K686N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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