ZNF439[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
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 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 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 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 60236	GRCh38/hg38 19p13.2(chr19:11807758-11868554)x3	LOC130063609, LOC130063610 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2300573	NM_001348719.2(ZNF439):c.137A>G (p.Lys46Arg)	ZNF439 (K41R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300574	NM_001348719.2(ZNF439):c.141T>A (p.Asn47Lys)	ZNF439 (N29K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195772	NM_001348719.2(ZNF439):c.172T>A (p.Trp58Arg)	ZNF439 (W40R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3335784	NM_001348719.2(ZNF439):c.246C>A (p.Asn82Lys)	ZNF439 (N82K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340558	NM_001348719.2(ZNF439):c.275A>G (p.Asn92Ser)	ZNF439 (N40S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601293	NM_001348719.2(ZNF439):c.346A>G (p.Lys116Glu)	ZNF439 (K116E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2331111	NM_001348719.2(ZNF439):c.503C>T (p.Pro168Leu)	ZNF439 (P163L +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381686	NM_001348719.2(ZNF439):c.534G>T (p.Leu178Phe)	ZNF439 (L126F +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335786	NM_001348719.2(ZNF439):c.616A>C (p.Ile206Leu)	ZNF439 (I201L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195773	NM_001348719.2(ZNF439):c.671G>C (p.Cys224Ser)	ZNF439 (C206S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208015	NM_001348719.2(ZNF439):c.682T>G (p.Phe228Val)	ZNF439 (F210V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454355	NM_001348719.2(ZNF439):c.887G>T (p.Ser296Ile)	ZNF439 (S244I +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612519	NM_001348719.2(ZNF439):c.893T>C (p.Met298Thr)	ZNF439 (M246T +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359993	NM_001348719.2(ZNF439):c.956G>A (p.Arg319His)	ZNF439 (R301H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539612	NM_001348719.2(ZNF439):c.1030A>T (p.Thr344Ser)	ZNF439 (T344S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606463	NM_001348719.2(ZNF439):c.1057C>T (p.His353Tyr)	ZNF439 (H335Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335787	NM_001348719.2(ZNF439):c.1084A>C (p.Lys362Gln)	ZNF439 (K221Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335785	NM_001348719.2(ZNF439):c.1135A>G (p.Lys379Glu)	ZNF439 (K238E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342361	NM_001348719.2(ZNF439):c.1157C>T (p.Pro386Leu)	ZNF439 (P381L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195768	NM_001348719.2(ZNF439):c.1236G>C (p.Glu412Asp)	ZNF439 (E271D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208634	NM_001348719.2(ZNF439):c.1256A>G (p.Gln419Arg)	ZNF439 (Q367R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195770	NM_001348719.2(ZNF439):c.1267G>A (p.Ala423Thr)	ZNF439 (A371T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335788	NM_001348719.2(ZNF439):c.1438T>G (p.Phe480Val)	ZNF439 (F339V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195771	NM_001348719.2(ZNF439):c.1498T>C (p.Trp500Arg)	ZNF439 (W503R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488890	NM_001348719.2(ZNF439):c.1508C>T (p.Thr503Ile)	ZNF439 (T451I +5 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 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 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 395175	GRCh37/hg19 19p13.2(chr19:11915402-12061277)x3	ZNF439, ZNF440 +3 more	Copy number gain	See cases	GLikely benign

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Items: 44