ZNF827[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 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
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 147586	GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1	ABCE1, ANAPC10 +42 more	Copy number loss	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 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
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 3198653	NM_001306215.2(ZNF827):c.3058G>A (p.Glu1020Lys)	C4orf51, ZNF827 (E1020K)	Single nucleotide variant (missense variant)	not specified	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 3198652	NM_001306215.2(ZNF827):c.2890A>G (p.Asn964Asp)	C4orf51, ZNF827 (N964D)	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 2568427	NM_001306215.2(ZNF827):c.2845G>A (p.Gly949Ser)	C4orf51, ZNF827 (G949S)	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 736538	NM_001306215.2(ZNF827):c.2718C>T (p.Thr906=)	C4orf51, ZNF827	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2552027	NM_001306215.2(ZNF827):c.2534A>G (p.Tyr845Cys)	C4orf51, ZNF827 (Y845C)	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 2218473	NM_001306215.2(ZNF827):c.2461G>A (p.Val821Met)	C4orf51, ZNF827 (V821M)	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 2335620	NM_001306215.2(ZNF827):c.2344C>G (p.Pro782Ala)	ZNF827 (P782A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779878	NM_001306215.2(ZNF827):c.2316A>T (p.Pro772=)	ZNF827	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 153192	GRCh38/hg38 4q31.21-31.22(chr4:145841034-146227595)x1	LINC01095, LOC105377468 +22 more	Copy number loss	See cases	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 1299445	NM_001306215.2(ZNF827):c.2153del (p.Pro718fs)	ZNF827 (P718fs)	Deletion (frameshift variant)	not provided	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 2343681	NM_001306215.2(ZNF827):c.2132T>C (p.Met711Thr)	ZNF827 (M711T)	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 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 2409952	NM_001306215.2(ZNF827):c.1835G>C (p.Arg612Pro)	ZNF827 (R612P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2368101	NM_001306215.2(ZNF827):c.1772A>G (p.Asn591Ser)	ZNF827 (N591S)	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 2248629	NM_001306215.2(ZNF827):c.1633G>T (p.Ala545Ser)	ZNF827 (A545S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2259085	NM_001306215.2(ZNF827):c.1552T>C (p.Ser518Pro)	ZNF827 (S518P)	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 2225829	NM_001306215.2(ZNF827):c.1495G>A (p.Gly499Arg)	ZNF827 (G499R)	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 2330999	NM_001306215.2(ZNF827):c.1157A>G (p.Lys386Arg)	ZNF827 (K386R)	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 2328613	NM_001306215.2(ZNF827):c.1111G>A (p.Gly371Arg)	ZNF827 (G371R)	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 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 2672164	NM_001306215.2(ZNF827):c.808G>T (p.Glu270Ter)	ZNF827 (E270*)	Single nucleotide variant (nonsense)	not provided	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 2207078	NM_001306215.2(ZNF827):c.677A>G (p.Lys226Arg)	ZNF827 (K226R)	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 2593861	NM_001306215.2(ZNF827):c.614G>C (p.Ser205Thr)	ZNF827 (S205T)	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 2430057	NM_001306215.2(ZNF827):c.590T>A (p.Leu197Ter)	ZNF827 (L197*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	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 2592623	NM_001306215.2(ZNF827):c.563G>A (p.Arg188His)	ZNF827 (R188H)	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 2380323	NM_001306215.2(ZNF827):c.473C>T (p.Pro158Leu)	ZNF827 (P158L)	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 2408100	NM_001306215.2(ZNF827):c.442G>A (p.Val148Ile)	ZNF827 (V148I)	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 2368242	NM_001306215.2(ZNF827):c.296A>G (p.Asp99Gly)	ZNF827 (D99G)	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 2407520	NM_001306215.2(ZNF827):c.206C>T (p.Thr69Ile)	ZNF827 (T69I)	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 2461754	NM_001306215.2(ZNF827):c.175C>T (p.Arg59Trp)	ZNF827 (R59W)	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 2593630	NM_001306215.2(ZNF827):c.114G>C (p.Glu38Asp)	ZNF827 (E38D)	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 2354598	NM_001306215.2(ZNF827):c.53G>A (p.Arg18Lys)	ZNF827 (R18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +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	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1455428	NC_000004.11:g.(?_146560292)_(149358012_?)del	TMEM184C, TTC29 +10 more	Deletion	Methylmalonic aciduria, cblA type	GPathogenic
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 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	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +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	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 95