ZNF317[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 2594326	NM_020933.5(ZNF317):c.29C>T (p.Thr10Met)	ZNF317 (T10M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2274771	NM_020933.5(ZNF317):c.34A>C (p.Thr12Pro)	ZNF317 (T12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195070	NM_020933.5(ZNF317):c.387T>G (p.Asp129Glu)	ZNF317 (D129E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195071	NM_020933.5(ZNF317):c.458G>T (p.Gly153Val)	ZNF317 (G121V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195072	NM_020933.5(ZNF317):c.464C>T (p.Thr155Met)	ZNF317 (T155M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317558	NM_020933.5(ZNF317):c.538C>T (p.His180Tyr)	ZNF317 (H148Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356813	NM_020933.5(ZNF317):c.539A>G (p.His180Arg)	ZNF317 (H180R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367611	NM_020933.5(ZNF317):c.586C>T (p.Arg196Cys)	ZNF317 (R164C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368795	NM_020933.5(ZNF317):c.589C>T (p.Arg197Cys)	ZNF317 (R165C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241672	NM_020933.5(ZNF317):c.639G>A (p.Met213Ile)	ZNF317 (M213I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598668	NM_020933.5(ZNF317):c.736G>A (p.Gly246Arg)	ZNF317 (G214R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353544	NM_020933.5(ZNF317):c.805G>A (p.Ala269Thr)	ZNF317 (A237T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232771	NM_020933.5(ZNF317):c.967G>A (p.Ala323Thr)	ZNF317 (A323T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195073	NM_020933.5(ZNF317):c.975G>C (p.Lys325Asn)	ZNF317 (K293N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482322	NM_020933.5(ZNF317):c.977G>A (p.Arg326Lys)	ZNF317 (R294K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468861	NM_020933.5(ZNF317):c.995G>A (p.Arg332Lys)	ZNF317 (R300K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514290	NM_020933.5(ZNF317):c.1057G>A (p.Val353Met)	ZNF317 (V321M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618054	NM_020933.5(ZNF317):c.1148A>G (p.Asn383Ser)	ZNF317 (N351S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204280	NM_020933.5(ZNF317):c.1207G>T (p.Val403Leu)	ZNF317 (V403L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2486904	NM_020933.5(ZNF317):c.1214G>A (p.Arg405Gln)	ZNF317 (R405Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235439	NM_020933.5(ZNF317):c.1238T>C (p.Ile413Thr)	ZNF317 (I381T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195065	NM_020933.5(ZNF317):c.1261C>T (p.Arg421Trp)	ZNF317 (R389W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232721	NM_020933.5(ZNF317):c.1345G>A (p.Asp449Asn)	ZNF317 (D417N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195066	NM_020933.5(ZNF317):c.1387G>A (p.Ala463Thr)	ZNF317 (A431T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195067	NM_020933.5(ZNF317):c.1432G>A (p.Ala478Thr)	ZNF317 (A478T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195068	NM_020933.5(ZNF317):c.1450G>A (p.Gly484Ser)	ZNF317 (G484S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318910	NM_020933.5(ZNF317):c.1644C>G (p.His548Gln)	ZNF317 (H516Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543375	NM_020933.5(ZNF317):c.1748A>G (p.Glu583Gly)	ZNF317 (E583G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591840	NM_020933.5(ZNF317):c.1768G>A (p.Val590Met)	ZNF317 (V558M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980198	GRCh37/hg19 19p13.2(chr19:8680063-9273676)x3	ACTL9, MBD3L1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 980195	GRCh37/hg19 19p13.2(chr19:9245167-9465565)x3	ZNF559-ZNF177, OR7D4 +5 more	Copy number gain	not provided	GLikely benign
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221349	Single allele	COL5A3, FBXL12 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 40