ClinVar for Gene (Select 54811) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258687	NM_001130031.2(ZNF562):c.1136A>G (p.Lys379Arg)	ZNF562 (K307R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258686	NM_001130031.2(ZNF562):c.770A>G (p.Lys257Arg)	ZNF562 (K185R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258685	NM_001130031.2(ZNF562):c.905C>G (p.Ser302Cys)	ZNF562 (S230C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258684	NM_001130031.2(ZNF562):c.35C>A (p.Pro12His)	ZNF562 (P12H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196744	NM_001130031.2(ZNF562):c.889T>C (p.Phe297Leu)	ZNF562 (F296L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196743	NM_001130031.2(ZNF562):c.557C>A (p.Thr186Asn)	ZNF562 (T114N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196741	NM_001130031.2(ZNF562):c.293G>A (p.Arg98Gln)	ZNF562 (R26Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196740	NM_001130031.2(ZNF562):c.1157C>T (p.Thr386Met)	ZNF562 (T314M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196739	NM_001130031.2(ZNF562):c.1061C>G (p.Thr354Ser)	ZNF562 (T282S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685629	GRCh37/hg19 19p13.2(chr19:9725258-9797352)x1	ZNF561, ZNF562	Copy number loss	not provided	GUncertain significance
Select item 2593909	NM_001130031.2(ZNF562):c.920T>G (p.Ile307Ser)	ZNF562 (I306S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543703	NM_001130031.2(ZNF562):c.1100C>G (p.Thr367Ser)	ZNF562 (T366S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528328	NM_001130031.2(ZNF562):c.16A>G (p.Met6Val)	ZNF562 (M6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511153	NM_001130031.2(ZNF562):c.487A>C (p.Ile163Leu)	ZNF562 (I162L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511152	NM_001130031.2(ZNF562):c.485G>T (p.Ser162Ile)	ZNF562 (S162I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481258	NM_001130031.2(ZNF562):c.865G>C (p.Glu289Gln)	ZNF562 (E217Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476161	NM_001130031.2(ZNF562):c.830C>T (p.Ala277Val)	ZNF562 (A276V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459341	NM_001130031.2(ZNF562):c.103A>G (p.Asn35Asp)	ZNF562 (N35D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380455	NM_001130031.2(ZNF562):c.526T>C (p.Ser176Pro)	ZNF562 (S176P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348808	NM_001130031.2(ZNF562):c.956C>T (p.Thr319Met)	ZNF562 (T247M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336062	NM_001130031.2(ZNF562):c.1042G>A (p.Glu348Lys)	ZNF562 (E276K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279100	NM_001130031.2(ZNF562):c.449G>A (p.Gly150Glu)	ZNF562 (G149E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273702	NM_001130031.2(ZNF562):c.13G>A (p.Asp5Asn)	ZNF562 (D5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271830	NM_001130031.2(ZNF562):c.626G>C (p.Cys209Ser)	ZNF562 (C209S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251097	NM_001130031.2(ZNF562):c.654C>A (p.Ser218Arg)	ZNF562 (S217R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228257	NM_001130031.2(ZNF562):c.1169A>G (p.His390Arg)	ZNF562 (H389R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207359	NM_001130031.2(ZNF562):c.845A>G (p.His282Arg)	ZNF562 (H282R +2 more)	Single nucleotide variant (missense variant)	not specified	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 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 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
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 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36