ZNF440[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +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	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +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	BEST2, BRME1 +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 2274170	NM_152357.3(ZNF440):c.67A>G (p.Ile23Val)	ZNF440 (I23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534660	NM_152357.3(ZNF440):c.89G>A (p.Arg30Lys)	ZNF440 (R30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769959	NM_152357.3(ZNF440):c.127T>A (p.Leu43Ile)	ZNF440 (L43I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3195789	NM_152357.3(ZNF440):c.205G>A (p.Glu69Lys)	ZNF440 (E69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469445	NM_152357.3(ZNF440):c.237T>G (p.His79Gln)	ZNF440 (H79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195790	NM_152357.3(ZNF440):c.370A>G (p.Asn124Asp)	ZNF440 (N124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224895	NM_152357.3(ZNF440):c.377G>A (p.Arg126Lys)	ZNF440 (R126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558724	NM_152357.3(ZNF440):c.491G>A (p.Arg164Lys)	ZNF440 (R164K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274816	NM_152357.3(ZNF440):c.514A>T (p.Asn172Tyr)	ZNF440 (N172Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195791	NM_152357.3(ZNF440):c.536A>G (p.Lys179Arg)	ZNF440 (K179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402208	NM_152357.3(ZNF440):c.599A>G (p.Tyr200Cys)	ZNF440 (Y200C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195792	NM_152357.3(ZNF440):c.656A>G (p.Glu219Gly)	ZNF440 (E219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521718	NM_152357.3(ZNF440):c.743G>T (p.Arg248Ile)	ZNF440 (R248I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289303	NM_152357.3(ZNF440):c.746C>T (p.Thr249Ile)	ZNF440 (T249I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195793	NM_152357.3(ZNF440):c.755G>A (p.Gly252Glu)	ZNF440 (G252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297837	NM_152357.3(ZNF440):c.798T>G (p.His266Gln)	ZNF440 (H266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370904	NM_152357.3(ZNF440):c.814C>T (p.Arg272Cys)	ZNF440 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195794	NM_152357.3(ZNF440):c.881C>T (p.Thr294Met)	ZNF440 (T294M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216376	NM_152357.3(ZNF440):c.883T>G (p.Cys295Gly)	ZNF440 (C295G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310771	NM_152357.3(ZNF440):c.889C>T (p.Arg297Cys)	ZNF440 (R297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389581	NM_152357.3(ZNF440):c.944A>C (p.Lys315Thr)	ZNF440 (K315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195795	NM_152357.3(ZNF440):c.991G>A (p.Val331Ile)	ZNF440 (V331I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240691	NM_152357.3(ZNF440):c.999G>C (p.Leu333Phe)	ZNF440 (L333F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388822	NM_152357.3(ZNF440):c.1033T>C (p.Cys345Arg)	ZNF440 (C345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524667	NM_152357.3(ZNF440):c.1191G>T (p.Glu397Asp)	ZNF440 (E397D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521682	NM_152357.3(ZNF440):c.1199A>G (p.Gln400Arg)	ZNF440 (Q400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780069	NM_152357.3(ZNF440):c.1234C>T (p.Arg412Ter)	ZNF440 (R412*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2370554	NM_152357.3(ZNF440):c.1235G>A (p.Arg412Gln)	ZNF440 (R412Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258600	NM_152357.3(ZNF440):c.1271A>G (p.Tyr424Cys)	ZNF440 (Y424C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245655	NM_152357.3(ZNF440):c.1273G>C (p.Glu425Gln)	ZNF440 (E425Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588169	NM_152357.3(ZNF440):c.1369C>T (p.Arg457Cys)	ZNF440 (R457C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337406	NM_152357.3(ZNF440):c.1370G>A (p.Arg457His)	ZNF440 (R457H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195784	NM_152357.3(ZNF440):c.1373A>T (p.Tyr458Phe)	ZNF440 (Y458F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537004	NM_152357.3(ZNF440):c.1474T>A (p.Ser492Thr)	ZNF440 (S492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299054	NM_152357.3(ZNF440):c.1564A>G (p.Lys522Glu)	ZNF440 (K522E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205243	NM_152357.3(ZNF440):c.1595G>A (p.Cys532Tyr)	ZNF440 (C532Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234793	NM_152357.3(ZNF440):c.1645G>A (p.Gly549Arg)	ZNF440 (G549R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195785	NM_152357.3(ZNF440):c.1684G>A (p.Val562Ile)	ZNF440 (V562I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195786	NM_152357.3(ZNF440):c.1699G>C (p.Glu567Gln)	ZNF440 (E567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195787	NM_152357.3(ZNF440):c.1702A>G (p.Arg568Gly)	ZNF440 (R568G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195788	NM_152357.3(ZNF440):c.1742A>G (p.Asp581Gly)	ZNF440 (D581G)	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	HOOK2, TRMT1 +81 more	Duplication	Deficiency of alpha-mannosidase +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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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)	PRKCSH, PTGER1 +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: 60