ZNF490[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
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 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 3258388	NM_020714.3(ZNF490):c.1562A>C (p.Glu521Ala)	LOC126862857, ZNF490 (E521A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357221	NM_020714.3(ZNF490):c.1555G>T (p.Val519Leu)	LOC126862857, ZNF490 (V519L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280216	NM_020714.3(ZNF490):c.1555G>A (p.Val519Met)	LOC126862857, ZNF490 (V519M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248103	NM_020714.3(ZNF490):c.1360G>A (p.Val454Ile)	LOC126862857, ZNF490 (V454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258387	NM_020714.3(ZNF490):c.1165C>T (p.Pro389Ser)	LOC126862857, ZNF490 (P389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523143	NM_020714.3(ZNF490):c.1069A>T (p.Thr357Ser)	LOC126862857, ZNF490 (T357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209888	NM_020714.3(ZNF490):c.1057G>A (p.Val353Met)	ZNF490, LOC126862857 (V353M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250737	NM_020714.3(ZNF490):c.1048C>G (p.Arg350Gly)	LOC126862857, ZNF490 (R350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258386	NM_020714.3(ZNF490):c.1002T>A (p.Phe334Leu)	LOC126862857, ZNF490 (F334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196130	NM_020714.3(ZNF490):c.998C>T (p.Pro333Leu)	LOC126862857, ZNF490 (P333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404885	NM_020714.3(ZNF490):c.968G>A (p.Ser323Asn)	LOC126862857, ZNF490 (S323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258385	NM_020714.3(ZNF490):c.965G>A (p.Arg322Gln)	LOC126862857, ZNF490 (R322Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377209	NM_020714.3(ZNF490):c.964C>T (p.Arg322Trp)	LOC126862857, ZNF490 (R322W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606589	NM_020714.3(ZNF490):c.941C>A (p.Ala314Asp)	ZNF490 (A314D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196129	NM_020714.3(ZNF490):c.836A>T (p.Lys279Ile)	ZNF490 (K279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196128	NM_020714.3(ZNF490):c.800G>A (p.Arg267His)	ZNF490 (R267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324280	NM_020714.3(ZNF490):c.760G>C (p.Glu254Gln)	ZNF490 (E254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242699	NM_020714.3(ZNF490):c.759G>C (p.Lys253Asn)	ZNF490 (K253N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258390	NM_020714.3(ZNF490):c.713G>A (p.Arg238Gln)	ZNF490 (R238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328529	NM_020714.3(ZNF490):c.605C>T (p.Thr202Ile)	ZNF490 (T202I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731849	NM_020714.3(ZNF490):c.600G>A (p.Gly200=)	ZNF490	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3196127	NM_020714.3(ZNF490):c.553G>A (p.Glu185Lys)	ZNF490 (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345698	NM_020714.3(ZNF490):c.413G>A (p.Ser138Asn)	ZNF490 (S138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196126	NM_020714.3(ZNF490):c.388G>C (p.Asp130His)	ZNF490 (D130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556327	NM_020714.3(ZNF490):c.358A>G (p.Met120Val)	ZNF490 (M120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196125	NM_020714.3(ZNF490):c.259C>T (p.Arg87Trp)	ZNF490 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305168	NM_020714.3(ZNF490):c.230G>A (p.Gly77Asp)	ZNF490 (G77D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227533	NM_020714.3(ZNF490):c.202C>G (p.Leu68Val)	ZNF490 (L68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493192	NM_020714.3(ZNF490):c.175C>T (p.Leu59Phe)	ZNF490 (L59F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478396	NM_020714.3(ZNF490):c.173C>G (p.Ser58Cys)	ZNF490 (S58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258389	NM_020714.3(ZNF490):c.130G>A (p.Glu44Lys)	ZNF490 (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263715	NM_020714.3(ZNF490):c.124A>T (p.Asn42Tyr)	ZNF490 (N42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263870	NM_020714.3(ZNF490):c.123G>T (p.Gln41His)	ZNF490 (Q41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341919	NM_020714.3(ZNF490):c.16A>G (p.Ser6Gly)	LOC130063643, ZNF490 (S6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
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 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	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 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic

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Items: 58