ClinVar for Gene (Select 90589) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3197314	NM_145233.4(ZNF625):c.995A>G (p.Glu332Gly)	ZNF625, ZNF625-ZNF20 (E332G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197312	NM_145233.4(ZNF625):c.145G>A (p.Asp49Asn)	ZNF625, ZNF625-ZNF20 (D49N)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2553070	NM_145233.4(ZNF625):c.770A>G (p.His257Arg)	ZNF625, ZNF625-ZNF20 (H257R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543127	NM_145233.4(ZNF625):c.860T>C (p.Phe287Ser)	ZNF625, ZNF625-ZNF20 (F287S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542573	NM_145233.4(ZNF625):c.230A>T (p.Asp77Val)	ZNF625, ZNF625-ZNF20 (D77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541242	NM_145233.4(ZNF625):c.1072C>A (p.Pro358Thr)	ZNF625, ZNF625-ZNF20 (P358T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489415	NM_145233.4(ZNF625):c.910G>A (p.Glu304Lys)	ZNF625, ZNF625-ZNF20 (E304K)	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	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 2334192	NM_145233.4(ZNF625):c.1105G>C (p.Glu369Gln)	ZNF625, ZNF625-ZNF20 (E369Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334074	NM_145233.4(ZNF625):c.442C>T (p.Pro148Ser)	ZNF625, ZNF625-ZNF20 (P148S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268986	NM_145233.4(ZNF625):c.956G>A (p.Arg319Gln)	ZNF625, ZNF625-ZNF20 (R319Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263547	NM_145233.4(ZNF625):c.317G>A (p.Ser106Asn)	ZNF625, ZNF625-ZNF20 (S106N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259858	NM_145233.4(ZNF625):c.293G>A (p.Arg98Gln)	ZNF625, ZNF625-ZNF20 (R98Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256626	NM_145233.4(ZNF625):c.557G>C (p.Ser186Thr)	ZNF625, ZNF625-ZNF20 (S186T)	Single nucleotide variant (missense variant +1 more)	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 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	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 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

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Links from Gene

Items: 31