ZNF506[gene] - ClinVar

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

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155371	GRCh38/hg38 19p13.11-12(chr19:19767502-21093565)x1	ERVS71-1, LINC00663 +25 more	Copy number loss	See cases	GUncertain significance
Select item 2681671	NM_001099269.3(ZNF506):c.1188G>C (p.Pro396=)	ZNF506	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3196247	NM_001099269.3(ZNF506):c.1165A>G (p.Ile389Val)	ZNF506 (I389V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537493	NM_001099269.3(ZNF506):c.1127A>G (p.Lys376Arg)	ZNF506 (K344R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570172	NM_001099269.3(ZNF506):c.981C>A (p.Asn327Lys)	ZNF506 (N327K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536237	NM_001099269.3(ZNF506):c.831A>C (p.Lys277Asn)	ZNF506 (K277N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278338	NM_001099269.3(ZNF506):c.788G>A (p.Gly263Asp)	ZNF506 (G263D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258446	NM_001099269.3(ZNF506):c.772A>G (p.Arg258Gly)	ZNF506 (R226G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258448	NM_001099269.3(ZNF506):c.740A>G (p.His247Arg)	ZNF506 (H247R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511123	NM_001099269.3(ZNF506):c.700T>C (p.Cys234Arg)	ZNF506 (C202R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263481	NM_001099269.3(ZNF506):c.599G>T (p.Arg200Leu)	ZNF506 (R168L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604205	NM_001099269.3(ZNF506):c.565A>G (p.Thr189Ala)	ZNF506 (T157A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455537	NM_001099269.3(ZNF506):c.562C>T (p.Arg188Cys)	ZNF506 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296330	NM_001099269.3(ZNF506):c.559A>G (p.Thr187Ala)	ZNF506 (T155A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312928	NM_001099269.3(ZNF506):c.521A>C (p.Lys174Thr)	ZNF506 (K142T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196251	NM_001099269.3(ZNF506):c.514T>C (p.Ser172Pro)	ZNF506 (S140P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258445	NM_001099269.3(ZNF506):c.376C>T (p.His126Tyr)	ZNF506 (H126Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196250	NM_001099269.3(ZNF506):c.354A>T (p.Glu118Asp)	ZNF506 (E118D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275811	NM_001099269.3(ZNF506):c.350G>A (p.Cys117Tyr)	ZNF506 (C117Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228892	NM_001099269.3(ZNF506):c.296T>C (p.Ile99Thr)	ZNF506 (I67T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196249	NM_001099269.3(ZNF506):c.245C>T (p.Ala82Val)	ZNF506 (A50V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356784	NM_001099269.3(ZNF506):c.230T>C (p.Met77Thr)	ZNF506 (M45T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615349	NM_001099269.3(ZNF506):c.123C>G (p.Ile41Met)	ZNF506 (I41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392030	NM_001099269.3(ZNF506):c.102A>T (p.Leu34Phe)	ZNF506 (L34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258447	NM_001099269.3(ZNF506):c.76C>G (p.Arg26Gly)	ZNF506 (R26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196252	NM_001099269.3(ZNF506):c.59G>T (p.Cys20Phe)	ZNF506 (C20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196248	NM_001099269.3(ZNF506):c.13C>A (p.Gln5Lys)	ZNF506 (Q5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210870	NM_001099269.3(ZNF506):c.13C>G (p.Gln5Glu)	ZNF506 (Q5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564603	GRCh37/hg19 19p13.11-12(chr19:19903805-21966609)x1	ZNF737, ZNF708 +14 more	Copy number loss	not provided	GUncertain significance
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 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	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: 40