ZNF217[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 549649	NM_006526.2(ZNF217):c.561_22199dup	LOC101927770, TSHZ2 +1 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 3194432	NM_006526.3(ZNF217):c.3082C>A (p.Gln1028Lys)	ZNF217, ZNF217-AS1 (Q1028K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791210	NM_006526.3(ZNF217):c.3054A>T (p.Ser1018=)	ZNF217, ZNF217-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3194431	NM_006526.3(ZNF217):c.3049G>C (p.Val1017Leu)	ZNF217, ZNF217-AS1 (V1017L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399212	NM_006526.3(ZNF217):c.3041A>G (p.Lys1014Arg)	ZNF217, ZNF217-AS1 (K1014R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194430	NM_006526.3(ZNF217):c.3029C>T (p.Thr1010Met)	ZNF217 (T1010M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540998	NM_006526.3(ZNF217):c.3014C>T (p.Pro1005Leu)	ZNF217 (P1005L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194428	NM_006526.3(ZNF217):c.3008G>T (p.Gly1003Val)	ZNF217 (G1003V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785658	NM_006526.3(ZNF217):c.3006T>C (p.Ala1002=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3194427	NM_006526.3(ZNF217):c.2969A>G (p.Tyr990Cys)	ZNF217 (Y990C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363409	NM_006526.3(ZNF217):c.2941C>T (p.Pro981Ser)	ZNF217 (P981S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652417	NM_006526.3(ZNF217):c.2886G>A (p.Pro962=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738601	NM_006526.3(ZNF217):c.2868G>A (p.Pro956=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791211	NM_006526.3(ZNF217):c.2850C>T (p.Gly950=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2613123	NM_006526.3(ZNF217):c.2784C>A (p.Asp928Glu)	ZNF217 (D928E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652418	NM_006526.3(ZNF217):c.2769C>T (p.Ser923=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316796	NM_006526.3(ZNF217):c.2665G>A (p.Asp889Asn)	ZNF217 (D889N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780610	NM_006526.3(ZNF217):c.2655C>G (p.Pro885=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3194426	NM_006526.3(ZNF217):c.2636A>G (p.Asn879Ser)	ZNF217 (N879S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780611	NM_006526.3(ZNF217):c.2613C>A (p.Pro871=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2378383	NM_006526.3(ZNF217):c.2587C>A (p.Pro863Thr)	ZNF217 (P863T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785659	NM_006526.3(ZNF217):c.2514A>G (p.Gln838=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2312570	NM_006526.3(ZNF217):c.2498C>T (p.Ala833Val)	ZNF217 (A833V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340754	NM_006526.3(ZNF217):c.2419G>A (p.Gly807Arg)	ZNF217 (G807R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206099	NM_006526.3(ZNF217):c.2363C>T (p.Pro788Leu)	ZNF217 (P788L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194424	NM_006526.3(ZNF217):c.2345C>T (p.Ala782Val)	ZNF217 (A782V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710787	NM_006526.3(ZNF217):c.2305T>C (p.Ser769Pro)	ZNF217 (S769P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3194423	NM_006526.3(ZNF217):c.2276C>T (p.Ala759Val)	ZNF217 (A759V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652419	NM_006526.3(ZNF217):c.2271G>A (p.Pro757=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389509	NM_006526.3(ZNF217):c.2243T>G (p.Leu748Trp)	ZNF217 (L748W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194422	NM_006526.3(ZNF217):c.2209C>T (p.Pro737Ser)	ZNF217 (P737S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460538	NM_006526.3(ZNF217):c.2181G>A (p.Met727Ile)	ZNF217 (M727I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320305	NM_006526.3(ZNF217):c.2153A>G (p.Lys718Arg)	ZNF217 (K718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194421	NM_006526.3(ZNF217):c.2071G>A (p.Val691Met)	ZNF217 (V691M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194420	NM_006526.3(ZNF217):c.2003C>T (p.Thr668Met)	ZNF217 (T668M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194419	NM_006526.3(ZNF217):c.1952C>T (p.Pro651Leu)	ZNF217 (P651L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389947	NM_006526.3(ZNF217):c.1780C>A (p.Pro594Thr)	ZNF217 (P594T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194418	NM_006526.3(ZNF217):c.1772T>C (p.Val591Ala)	ZNF217 (V591A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652420	NM_006526.3(ZNF217):c.1761G>A (p.Leu587=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2366210	NM_006526.3(ZNF217):c.1653T>G (p.Ser551Arg)	ZNF217 (S551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785660	NM_006526.3(ZNF217):c.1581C>T (p.Thr527=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2560142	NM_006526.3(ZNF217):c.1393A>G (p.Lys465Glu)	ZNF217 (K465E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556670	NM_006526.3(ZNF217):c.1231T>C (p.Ser411Pro)	ZNF217 (S411P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343652	NM_006526.3(ZNF217):c.1220C>T (p.Ser407Leu)	ZNF217 (S407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269624	NM_006526.3(ZNF217):c.1208C>T (p.Ala403Val)	ZNF217 (A403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518515	NM_006526.3(ZNF217):c.1093C>A (p.Pro365Thr)	ZNF217 (P365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457477	NM_006526.3(ZNF217):c.1084G>T (p.Asp362Tyr)	ZNF217 (D362Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374865	NM_006526.3(ZNF217):c.1081G>A (p.Val361Met)	ZNF217 (V361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487437	NM_006526.3(ZNF217):c.988G>A (p.Glu330Lys)	ZNF217 (E330K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211083	NM_006526.3(ZNF217):c.982A>G (p.Ser328Gly)	ZNF217 (S328G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227569	NM_006526.3(ZNF217):c.947C>T (p.Ser316Leu)	ZNF217 (S316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194437	NM_006526.3(ZNF217):c.784A>G (p.Arg262Gly)	ZNF217 (R262G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551343	NM_006526.3(ZNF217):c.782C>T (p.Ser261Leu)	ZNF217 (S261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194436	NM_006526.3(ZNF217):c.745G>A (p.Ala249Thr)	ZNF217 (A249T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528761	NM_006526.3(ZNF217):c.737C>T (p.Thr246Ile)	ZNF217 (T246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194435	NM_006526.3(ZNF217):c.728C>T (p.Ala243Val)	ZNF217 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529723	NM_006526.3(ZNF217):c.629G>C (p.Ser210Thr)	ZNF217 (S210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592267	NM_006526.3(ZNF217):c.620C>T (p.Ala207Val)	ZNF217 (A207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194434	NM_006526.3(ZNF217):c.593C>T (p.Thr198Met)	ZNF217 (T198M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497723	NM_006526.3(ZNF217):c.439A>G (p.Met147Val)	ZNF217 (M147V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2322920	NM_006526.3(ZNF217):c.424G>C (p.Asp142His)	ZNF217 (D142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774532	NM_006526.3(ZNF217):c.387C>T (p.Ser129=)	ZNF217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3194433	NM_006526.3(ZNF217):c.353C>T (p.Pro118Leu)	ZNF217 (P118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290783	NM_006526.3(ZNF217):c.340C>G (p.Arg114Gly)	ZNF217 (R114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323910	NM_006526.3(ZNF217):c.255A>C (p.Leu85Phe)	ZNF217 (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194416	NM_006526.3(ZNF217):c.102G>A (p.Met34Ile)	ZNF217 (M34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253525	NM_006526.3(ZNF217):c.29C>T (p.Pro10Leu)	ZNF217 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685647	GRCh37/hg19 20q13.2(chr20:51192560-53918272)x1	BCAS1, CYP24A1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 441649	GRCh37/hg19 20q13.2(chr20:50327635-52375128)x3	ATP9A, SALL4 +3 more	Copy number gain	See cases	GUncertain significance

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: 78