ClinVar for Gene (Select 152485) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259699	NM_001306215.2(ZNF827):c.1782T>G (p.Phe594Leu)	ZNF827 (F594L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259698	NM_001306215.2(ZNF827):c.1406T>A (p.Ile469Asn)	ZNF827 (I469N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259697	NM_001306215.2(ZNF827):c.61G>A (p.Glu21Lys)	ZNF827 (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259696	NM_001306215.2(ZNF827):c.2107G>A (p.Glu703Lys)	ZNF827 (E703K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259695	NM_001306215.2(ZNF827):c.704T>C (p.Met235Thr)	ZNF827 (M235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259694	NM_001306215.2(ZNF827):c.1214C>T (p.Pro405Leu)	ZNF827 (P405L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259693	NM_001306215.2(ZNF827):c.455C>T (p.Ser152Leu)	ZNF827 (S152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198657	NM_001306215.2(ZNF827):c.998C>T (p.Pro333Leu)	ZNF827 (P333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198656	NM_001306215.2(ZNF827):c.992C>T (p.Pro331Leu)	ZNF827 (P331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198655	NM_001306215.2(ZNF827):c.946C>T (p.Pro316Ser)	ZNF827 (P316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198654	NM_001306215.2(ZNF827):c.486C>T (p.His162=)	ZNF827	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3198653	NM_001306215.2(ZNF827):c.3058G>A (p.Glu1020Lys)	C4orf51, ZNF827 (E1020K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198652	NM_001306215.2(ZNF827):c.2890A>G (p.Asn964Asp)	C4orf51, ZNF827 (N964D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198651	NM_001306215.2(ZNF827):c.2647G>A (p.Val883Ile)	C4orf51, ZNF827 (V883I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198650	NM_001306215.2(ZNF827):c.2198C>A (p.Ser733Tyr)	ZNF827 (S733Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198648	NM_001306215.2(ZNF827):c.2038G>A (p.Asp680Asn)	ZNF827 (D680N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198647	NM_001306215.2(ZNF827):c.1870T>C (p.Ser624Pro)	ZNF827 (S624P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198646	NM_001306215.2(ZNF827):c.1822A>G (p.Thr608Ala)	ZNF827 (T608A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198645	NM_001306215.2(ZNF827):c.1630C>T (p.Pro544Ser)	ZNF827 (P544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198644	NM_001306215.2(ZNF827):c.1481G>C (p.Gly494Ala)	ZNF827 (G494A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198642	NM_001306215.2(ZNF827):c.1061C>T (p.Pro354Leu)	ZNF827 (P354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198641	NM_001306215.2(ZNF827):c.1033T>A (p.Ser345Thr)	ZNF827 (S345T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198640	NM_001306215.2(ZNF827):c.101G>A (p.Gly34Glu)	ZNF827 (G34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062794	GRCh37/hg19 4q31.21-31.22(chr4:145985709-147160169)x3	ABCE1, ANAPC10 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062793	GRCh37/hg19 4q31.21-31.22(chr4:145985742-147160169)x3	ABCE1, ANAPC10 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2672164	NM_001306215.2(ZNF827):c.808G>T (p.Glu270Ter)	ZNF827 (E270*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2618138	NM_001306215.2(ZNF827):c.3007C>T (p.Pro1003Ser)	C4orf51, ZNF827 (P1003S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593861	NM_001306215.2(ZNF827):c.614G>C (p.Ser205Thr)	ZNF827 (S205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593630	NM_001306215.2(ZNF827):c.114G>C (p.Glu38Asp)	ZNF827 (E38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592623	NM_001306215.2(ZNF827):c.563G>A (p.Arg188His)	ZNF827 (R188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568875	NM_001306215.2(ZNF827):c.1117C>G (p.Pro373Ala)	ZNF827 (P373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568427	NM_001306215.2(ZNF827):c.2845G>A (p.Gly949Ser)	C4orf51, ZNF827 (G949S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552027	NM_001306215.2(ZNF827):c.2534A>G (p.Tyr845Cys)	C4orf51, ZNF827 (Y845C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535456	NM_001306215.2(ZNF827):c.178A>T (p.Ile60Phe)	ZNF827 (I60F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519808	NM_001306215.2(ZNF827):c.472C>T (p.Pro158Ser)	ZNF827 (P158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493833	NM_001306215.2(ZNF827):c.3220G>A (p.Gly1074Ser)	C4orf51, ZNF827 (G1074S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487023	NM_001306215.2(ZNF827):c.232A>G (p.Ser78Gly)	ZNF827 (S78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483824	NM_001306215.2(ZNF827):c.586T>C (p.Trp196Arg)	ZNF827 (W196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465943	NM_001306215.2(ZNF827):c.2351A>T (p.Asp784Val)	ZNF827 (D784V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461754	NM_001306215.2(ZNF827):c.175C>T (p.Arg59Trp)	ZNF827 (R59W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455461	NM_001306215.2(ZNF827):c.2134C>T (p.Pro712Ser)	ZNF827 (P712S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430057	NM_001306215.2(ZNF827):c.590T>A (p.Leu197Ter)	ZNF827 (L197*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2429816	NM_001306215.2(ZNF827):c.706C>T (p.Arg236Ter)	ZNF827 (R236*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely benign
Select item 2409952	NM_001306215.2(ZNF827):c.1835G>C (p.Arg612Pro)	ZNF827 (R612P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408100	NM_001306215.2(ZNF827):c.442G>A (p.Val148Ile)	ZNF827 (V148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407520	NM_001306215.2(ZNF827):c.206C>T (p.Thr69Ile)	ZNF827 (T69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388873	NM_001306215.2(ZNF827):c.347A>G (p.Asn116Ser)	ZNF827 (N116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380821	NM_001306215.2(ZNF827):c.2105G>A (p.Arg702Gln)	ZNF827 (R702Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380323	NM_001306215.2(ZNF827):c.473C>T (p.Pro158Leu)	ZNF827 (P158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368242	NM_001306215.2(ZNF827):c.296A>G (p.Asp99Gly)	ZNF827 (D99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368101	NM_001306215.2(ZNF827):c.1772A>G (p.Asn591Ser)	ZNF827 (N591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365942	NM_001306215.2(ZNF827):c.119C>T (p.Pro40Leu)	ZNF827 (P40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354598	NM_001306215.2(ZNF827):c.53G>A (p.Arg18Lys)	ZNF827 (R18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343681	NM_001306215.2(ZNF827):c.2132T>C (p.Met711Thr)	ZNF827 (M711T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342607	NM_001306215.2(ZNF827):c.593C>G (p.Pro198Arg)	ZNF827 (P198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335620	NM_001306215.2(ZNF827):c.2344C>G (p.Pro782Ala)	ZNF827 (P782A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330999	NM_001306215.2(ZNF827):c.1157A>G (p.Lys386Arg)	ZNF827 (K386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328613	NM_001306215.2(ZNF827):c.1111G>A (p.Gly371Arg)	ZNF827 (G371R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292693	NM_001306215.2(ZNF827):c.1549G>C (p.Val517Leu)	ZNF827 (V517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288044	NM_001306215.2(ZNF827):c.2888C>T (p.Ser963Leu)	C4orf51, ZNF827 (S963L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280456	NM_001306215.2(ZNF827):c.2483G>A (p.Arg828Gln)	C4orf51, ZNF827 (R828Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259085	NM_001306215.2(ZNF827):c.1552T>C (p.Ser518Pro)	ZNF827 (S518P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248629	NM_001306215.2(ZNF827):c.1633G>T (p.Ala545Ser)	ZNF827 (A545S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240636	NM_001306215.2(ZNF827):c.2783C>T (p.Ser928Leu)	C4orf51, ZNF827 (S928L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225829	NM_001306215.2(ZNF827):c.1495G>A (p.Gly499Arg)	ZNF827 (G499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222859	NM_001306215.2(ZNF827):c.1772A>T (p.Asn591Ile)	ZNF827 (N591I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218998	NM_001306215.2(ZNF827):c.667C>G (p.Leu223Val)	ZNF827 (L223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218473	NM_001306215.2(ZNF827):c.2461G>A (p.Val821Met)	C4orf51, ZNF827 (V821M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210973	NM_001306215.2(ZNF827):c.2309A>C (p.Gln770Pro)	ZNF827 (Q770P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207078	NM_001306215.2(ZNF827):c.677A>G (p.Lys226Arg)	ZNF827 (K226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1455428	NC_000004.11:g.(?_146560292)_(149358012_?)del	ARHGAP10, C4orf51 +10 more	Deletion	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1299445	NM_001306215.2(ZNF827):c.2153del (p.Pro718fs)	ZNF827 (P718fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 779878	NM_001306215.2(ZNF827):c.2316A>T (p.Pro772=)	ZNF827	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 736538	NM_001306215.2(ZNF827):c.2718C>T (p.Thr906=)	C4orf51, ZNF827	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687334	GRCh37/hg19 4q31.21-31.23(chr4:146118793-150492144)x1	ARHGAP10, C4orf51 +11 more	Copy number loss	not provided	GPathogenic
Select item 562972	GRCh37/hg19 4q31.22(chr4:146844421-147304884)x3	ZNF827, LSM6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253973	GRCh37/hg19 4q31.21-31.22(chr4:146210804-146816268)x1	ZNF827, C4orf51 +2 more	Copy number loss	See cases	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 153192	GRCh38/hg38 4q31.21-31.22(chr4:145841034-146227595)x1	LINC01095, LOC105377468 +22 more	Copy number loss	See cases	GUncertain significance
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 147586	GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1	ABCE1, ANAPC10 +42 more	Copy number loss	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic

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