ZFP3[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 153248	GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1	CAMTA2, CAMTA2-AS1 +48 more	Copy number loss	See cases	GLikely pathogenic
Select item 2606557	NM_153018.3(ZFP3):c.10G>A (p.Glu4Lys)	ZFP3 (E4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334459	NM_153018.3(ZFP3):c.106C>T (p.His36Tyr)	ZFP3 (H36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334456	NM_153018.3(ZFP3):c.167A>G (p.Glu56Gly)	ZFP3 (E56G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373550	NM_153018.3(ZFP3):c.226T>C (p.Phe76Leu)	ZFP3 (F76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478353	NM_153018.3(ZFP3):c.235T>C (p.Ser79Pro)	ZFP3 (S79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334457	NM_153018.3(ZFP3):c.334G>A (p.Val112Ile)	ZFP3 (V112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204376	NM_153018.3(ZFP3):c.356G>C (p.Gly119Ala)	ZFP3 (G119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193107	NM_153018.3(ZFP3):c.383C>T (p.Ser128Phe)	ZFP3 (S128F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542827	NM_153018.3(ZFP3):c.398G>C (p.Arg133Thr)	ZFP3 (R133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606911	NM_153018.3(ZFP3):c.463C>T (p.His155Tyr)	ZFP3 (H155Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330776	NM_153018.3(ZFP3):c.554G>A (p.Arg185Gln)	ZFP3 (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334458	NM_153018.3(ZFP3):c.647A>G (p.His216Arg)	ZFP3 (H216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295651	NM_153018.3(ZFP3):c.683A>C (p.Glu228Ala)	ZFP3 (E228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538378	NM_153018.3(ZFP3):c.723T>G (p.Ile241Met)	ZFP3 (I241M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282146	NM_153018.3(ZFP3):c.854A>T (p.Glu285Val)	ZFP3 (E285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334460	NM_153018.3(ZFP3):c.932G>A (p.Cys311Tyr)	ZFP3 (C311Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221598	NM_153018.3(ZFP3):c.1018A>C (p.Asn340His)	ZFP3 (N340H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213956	NM_153018.3(ZFP3):c.1214C>T (p.Thr405Ile)	ZFP3 (T405I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591042	NM_153018.3(ZFP3):c.1222C>T (p.Leu408Phe)	ZFP3 (L408F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255184	NM_153018.3(ZFP3):c.1295A>G (p.Asp432Gly)	ZFP3 (D432G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193106	NM_153018.3(ZFP3):c.1382A>G (p.His461Arg)	ZFP3 (H461R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256623	NM_153018.3(ZFP3):c.1463G>A (p.Arg488Gln)	ZFP3 (R488Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312132	NM_153018.3(ZFP3):c.1472A>G (p.His491Arg)	ZFP3 (H491R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1808317	GRCh37/hg19 17p13.2(chr17:4867994-5233679)x1	CAMTA2, INCA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 686942	GRCh37/hg19 17p13.2(chr17:4845435-5097302)x3	CAMTA2, ENO3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic

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Items: 53