ClinVar for Gene (Select 55552) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259692	NM_001080493.4(ZNF823):c.214G>A (p.Asp72Asn)	ZNF823 (D72N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259691	NM_001080493.4(ZNF823):c.91A>G (p.Asn31Asp)	ZNF823 (N31D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259690	NM_001080493.4(ZNF823):c.1759G>A (p.Glu587Lys)	ZNF823 (E405K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259688	NM_001080493.4(ZNF823):c.281G>A (p.Arg94Gln)	ZNF823 (R94Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198639	NM_001080493.4(ZNF823):c.980C>T (p.Thr327Ile)	ZNF823 (T327I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198638	NM_001080493.4(ZNF823):c.907C>T (p.Pro303Ser)	ZNF823 (P303S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198637	NM_001080493.4(ZNF823):c.422G>A (p.Arg141His)	ZNF823 (R141H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198636	NM_001080493.4(ZNF823):c.418C>A (p.Gln140Lys)	ZNF823 (Q140K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198635	NM_001080493.4(ZNF823):c.263T>C (p.Val88Ala)	ZNF823 (V44A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198634	NM_001080493.4(ZNF823):c.1285G>A (p.Gly429Ser)	ZNF823 (G247S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198633	NM_001080493.4(ZNF823):c.1028G>T (p.Cys343Phe)	ZNF823 (C299F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2595447	NM_001080493.4(ZNF823):c.790C>G (p.Leu264Val)	ZNF823 (L264V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524786	NM_001080493.4(ZNF823):c.946C>A (p.His316Asn)	ZNF823 (H316N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513921	NM_001080493.4(ZNF823):c.385C>A (p.Gln129Lys)	ZNF823 (Q129K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2355696	NM_001080493.4(ZNF823):c.319G>A (p.Val107Ile)	ZNF823 (V107I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322993	NM_001080493.4(ZNF823):c.1483G>A (p.Val495Ile)	ZNF823 (V313I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321212	NM_001080493.4(ZNF823):c.214G>T (p.Asp72Tyr)	ZNF823 (D72Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306724	NM_001080493.4(ZNF823):c.1469A>G (p.Lys490Arg)	ZNF823 (K490R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296821	NM_001080493.4(ZNF823):c.239T>C (p.Phe80Ser)	ZNF823 (F80S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296239	NM_001080493.4(ZNF823):c.1264G>T (p.Gly422Cys)	ZNF823 (G240C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285479	NM_001080493.4(ZNF823):c.1148C>T (p.Thr383Ile)	ZNF823 (T339I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274309	NM_001080493.4(ZNF823):c.1270G>A (p.Ala424Thr)	ZNF823 (A380T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269591	NM_001080493.4(ZNF823):c.539G>A (p.Arg180Gln)	ZNF823 (R136Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267795	NM_001080493.4(ZNF823):c.740C>A (p.Ala247Glu)	ZNF823 (A65E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258534	NM_001080493.4(ZNF823):c.1112A>T (p.His371Leu)	ZNF823 (H371L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257176	NM_001080493.4(ZNF823):c.1306G>T (p.Ala436Ser)	ZNF823 (A254S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251960	NM_001080493.4(ZNF823):c.974G>A (p.Arg325Lys)	ZNF823 (R143K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235632	NM_001080493.4(ZNF823):c.293G>A (p.Cys98Tyr)	ZNF823 (C98Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228280	NM_001080493.4(ZNF823):c.424G>A (p.Gly142Arg)	ZNF823 (G142R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222801	NM_001080493.4(ZNF823):c.1295G>A (p.Arg432Gln)	ZNF823 (R388Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809154	GRCh37/hg19 19p13.2(chr19:11753820-12272905)x1	ZNF20, ZNF433 +11 more	Copy number loss	not provided	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 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 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 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 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	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 47