ClinVar for Gene (Select 163051) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3197912	NM_152601.4(ZNF709):c.695C>T (p.Thr232Met)	ZNF709 (T232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197911	NM_152601.4(ZNF709):c.467G>A (p.Arg156Gln)	ZNF709 (R156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197910	NM_152601.4(ZNF709):c.332A>G (p.Tyr111Cys)	ZNF709 (Y111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197909	NM_152601.4(ZNF709):c.1880G>A (p.Cys627Tyr)	ZNF709 (C627Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197908	NM_152601.4(ZNF709):c.1115C>G (p.Ala372Gly)	ZNF709 (A372G)	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 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2621640	NM_152601.4(ZNF709):c.410A>G (p.Glu137Gly)	ZNF709 (E137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615778	NM_152601.4(ZNF709):c.211T>C (p.Cys71Arg)	ZNF709 (C71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540167	NM_152601.4(ZNF709):c.1151G>A (p.Arg384Gln)	ZNF709 (R384Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516909	NM_152601.4(ZNF709):c.1373G>C (p.Ser458Thr)	ZNF709 (S458T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468025	NM_152601.4(ZNF709):c.1757A>G (p.Lys586Arg)	ZNF709 (K586R)	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	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 2395071	NM_152601.4(ZNF709):c.1049G>A (p.Ser350Asn)	ZNF709 (S350N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382922	NM_152601.4(ZNF709):c.395A>T (p.Tyr132Phe)	ZNF709 (Y132F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350339	NM_152601.4(ZNF709):c.1619C>A (p.Ala540Glu)	ZNF709 (A540E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329371	NM_152601.4(ZNF709):c.1475G>A (p.Arg492Gln)	ZNF709 (R492Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285358	NM_152601.4(ZNF709):c.647G>C (p.Arg216Thr)	ZNF709 (R216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237310	NM_152601.4(ZNF709):c.428A>G (p.Lys143Arg)	ZNF709 (K143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210358	NM_152601.4(ZNF709):c.1258C>T (p.His420Tyr)	ZNF709 (H420Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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)	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 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

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Links from Gene

Items: 39