ZNF232[gene] - ClinVar

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Items: 65

	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	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	ALOX15, ANKFY1 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 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 2557904	NM_014519.6(ZNF232):c.1324C>T (p.Pro442Ser)	ZNF232 (P366S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194573	NM_014519.6(ZNF232):c.1301G>A (p.Arg434Gln)	ZNF232 (R406Q +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194572	NM_014519.6(ZNF232):c.1236G>T (p.Glu412Asp)	ZNF232 (E385D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194571	NM_014519.6(ZNF232):c.1217G>A (p.Arg406Gln)	ZNF232 (R330Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541639	NM_014519.6(ZNF232):c.1209T>A (p.Ser403Arg)	ZNF232 (S367R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194570	NM_014519.6(ZNF232):c.1144T>A (p.Ser382Thr)	ZNF232 (S297T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493056	NM_014519.6(ZNF232):c.1137G>T (p.Arg379Ser)	ZNF232 (R294S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274679	NM_014519.6(ZNF232):c.1078G>A (p.Glu360Lys)	ZNF232 (E284K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194569	NM_014519.6(ZNF232):c.1052G>T (p.Arg351Ile)	ZNF232 (R266I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245053	NM_014519.6(ZNF232):c.1039G>T (p.Gly347Cys)	ZNF232 (G262C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509229	NM_014519.6(ZNF232):c.992A>G (p.Tyr331Cys)	ZNF232 (Y303C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194579	NM_014519.6(ZNF232):c.941A>G (p.Tyr314Cys)	ZNF232 (Y229C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273087	NM_014519.6(ZNF232):c.934T>G (p.Phe312Val)	ZNF232 (F303V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478187	NM_014519.6(ZNF232):c.919G>A (p.Glu307Lys)	ZNF232 (E231K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225326	NM_014519.6(ZNF232):c.908A>G (p.His303Arg)	ZNF232 (H218R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377607	NM_014519.6(ZNF232):c.904G>A (p.Asp302Asn)	ZNF232 (D293N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464279	NM_014519.6(ZNF232):c.890C>T (p.Pro297Leu)	ZNF232 (P212L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226547	NM_014519.6(ZNF232):c.871G>A (p.Val291Ile)	ZNF232 (V255I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492408	NM_014519.6(ZNF232):c.744A>C (p.Lys248Asn)	ZNF232 (K212N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194578	NM_014519.6(ZNF232):c.691T>G (p.Ser231Ala)	ZNF232 (S222A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539352	NM_014519.6(ZNF232):c.659C>G (p.Thr220Arg)	ZNF232 (T135R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194577	NM_014519.6(ZNF232):c.524C>T (p.Ala175Val)	ZNF232 (A175V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274639	NM_014519.6(ZNF232):c.520C>T (p.Pro174Ser)	ZNF232 (P146S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647289	NM_014519.6(ZNF232):c.495G>C (p.Pro165=)	ZNF232	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3194576	NM_014519.6(ZNF232):c.488C>T (p.Pro163Leu)	ZNF232 (P136L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618375	NM_014519.6(ZNF232):c.468T>G (p.Asp156Glu)	ZNF232 (D129E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598216	NM_014519.6(ZNF232):c.446A>G (p.Glu149Gly)	ZNF232 (E122G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401257	NM_014519.6(ZNF232):c.376C>G (p.Gln126Glu)	ZNF232 (Q126E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301591	NM_014519.6(ZNF232):c.277C>T (p.Pro93Ser)	ZNF232 (P45S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233327	NM_014519.6(ZNF232):c.241C>G (p.Arg81Gly)	ZNF232 (R33G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194575	NM_014519.6(ZNF232):c.203C>T (p.Pro68Leu)	ZNF232 (P20L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316881	NM_014519.6(ZNF232):c.166G>C (p.Glu56Gln)	ZNF232 (E8Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194574	NM_014519.6(ZNF232):c.161C>T (p.Pro54Leu)	ZNF232 (P54L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560225	NM_014519.6(ZNF232):c.134G>A (p.Gly45Glu)	ZNF232 (G18E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2665032	NM_001304284.2(USP6):c.-1299+1281G>A	USP6, ZNF232	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	ABR, ACADVL +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	CLUH, CRK +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)	RTN4RL1, SCARF1 +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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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: 65