ClinVar for Gene (Select 163050) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258696	NM_144976.4(ZNF564):c.137A>C (p.Lys46Thr)	ZNF564 (K46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258695	NM_144976.4(ZNF564):c.247G>C (p.Ala83Pro)	ZNF564 (A83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258694	NM_144976.4(ZNF564):c.586C>T (p.Pro196Ser)	ZNF564 (P196S)	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 3196765	NM_144976.4(ZNF564):c.875C>G (p.Ser292Cys)	ZNF564 (S292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196764	NM_144976.4(ZNF564):c.419C>A (p.Pro140Gln)	ZNF564 (P140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196763	NM_144976.4(ZNF564):c.392A>G (p.Tyr131Cys)	ZNF564 (Y131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196762	NM_144976.4(ZNF564):c.25G>A (p.Val9Met)	ZNF564 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196761	NM_144976.4(ZNF564):c.1640C>T (p.Ser547Leu)	ZNF564 (S547L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196760	NM_144976.4(ZNF564):c.1612G>C (p.Gly538Arg)	ZNF564 (G538R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196759	NM_144976.4(ZNF564):c.1234G>A (p.Glu412Lys)	ZNF564 (E412K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196758	NM_144976.4(ZNF564):c.1180A>G (p.Lys394Glu)	ZNF564 (K394E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196756	NM_144976.4(ZNF564):c.1142G>A (p.Arg381Gln)	ZNF564 (R381Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196755	NM_144976.4(ZNF564):c.1111G>A (p.Gly371Arg)	ZNF564 (G371R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196754	NM_144976.4(ZNF564):c.1098A>T (p.Glu366Asp)	ZNF564 (E366D)	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 3024226	NC_000019.10:g.12536733_12537889del	MAN2B1, ZNF564	Deletion (intron variant)	Deficiency of alpha-mannosidase	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 2622600	NM_144976.4(ZNF564):c.1501G>A (p.Gly501Arg)	ZNF564 (G501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611915	NM_144976.4(ZNF564):c.127G>A (p.Val43Ile)	ZNF564 (V43I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600207	NM_144976.4(ZNF564):c.1583A>G (p.Asn528Ser)	ZNF564 (N528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525480	NM_144976.4(ZNF564):c.93T>G (p.Asp31Glu)	ZNF564 (D31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522190	NM_144976.4(ZNF564):c.28G>T (p.Ala10Ser)	ZNF564 (A10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466102	NM_144976.4(ZNF564):c.1511C>T (p.Pro504Leu)	ZNF564 (P504L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456047	NM_144976.4(ZNF564):c.407A>G (p.Tyr136Cys)	ZNF564 (Y136C)	Single nucleotide variant (missense variant)	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 2401649	NM_144976.4(ZNF564):c.1556C>G (p.Ser519Cys)	ZNF564 (S519C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390348	NM_144976.4(ZNF564):c.1117G>A (p.Ala373Thr)	ZNF564 (A373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360594	NM_144976.4(ZNF564):c.1589A>G (p.Asp530Gly)	ZNF564 (D530G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340468	NM_144976.4(ZNF564):c.605G>A (p.Cys202Tyr)	ZNF564 (C202Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319911	NM_144976.4(ZNF564):c.704T>G (p.Ile235Ser)	ZNF564 (I235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286129	NM_144976.4(ZNF564):c.584G>C (p.Gly195Ala)	ZNF564 (G195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286127	NM_144976.4(ZNF564):c.320T>G (p.Leu107Trp)	ZNF564 (L107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284806	NM_144976.4(ZNF564):c.505T>A (p.Tyr169Asn)	ZNF564 (Y169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273177	NM_144976.4(ZNF564):c.1427C>T (p.Pro476Leu)	ZNF564 (P476L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250490	NM_144976.4(ZNF564):c.1540T>A (p.Phe514Ile)	ZNF564 (F514I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247983	NM_144976.4(ZNF564):c.645T>G (p.His215Gln)	ZNF564 (H215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234977	NM_144976.4(ZNF564):c.541C>T (p.Leu181Phe)	ZNF564 (L181F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219136	NM_144976.4(ZNF564):c.1478G>C (p.Arg493Thr)	ZNF564 (R493T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211027	NM_144976.4(ZNF564):c.986G>T (p.Arg329Ile)	ZNF564 (R329I)	Single nucleotide variant (missense variant)	not specified	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 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
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	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 151464	GRCh38/hg38 19p13.2(chr19:12458412-12529618)x3	LOC125371479, ZNF564 +1 more	Copy number gain	See cases	GLikely benign
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 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +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	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 59