ClinVar for Gene (Select 126862857) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2523143	NM_020714.3(ZNF490):c.1069A>T (p.Thr357Ser)	LOC126862857, ZNF490 (T357S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404885	NM_020714.3(ZNF490):c.968G>A (p.Ser323Asn)	LOC126862857, ZNF490 (S323N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377209	NM_020714.3(ZNF490):c.964C>T (p.Arg322Trp)	LOC126862857, ZNF490 (R322W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357221	NM_020714.3(ZNF490):c.1555G>T (p.Val519Leu)	LOC126862857, ZNF490 (V519L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280216	NM_020714.3(ZNF490):c.1555G>A (p.Val519Met)	LOC126862857, ZNF490 (V519M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250737	NM_020714.3(ZNF490):c.1048C>G (p.Arg350Gly)	LOC126862857, ZNF490 (R350G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248103	NM_020714.3(ZNF490):c.1360G>A (p.Val454Ile)	LOC126862857, ZNF490 (V454I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209888	NM_020714.3(ZNF490):c.1057G>A (p.Val353Met)	ZNF490, LOC126862857 (V353M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	BEST2, BRME1 +355 more	Copy number loss	See cases	GPathogenic
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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +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 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC130063796, LOC130063797 +351 more	Copy number gain	See cases	GPathogenic
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 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic