ZNF443[gene] - ClinVar

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Items: 83

	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 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	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 3258121	NM_005815.5(ZNF443):c.1981C>T (p.Leu661Phe)	ZNF443 (L661F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329046	NM_005815.5(ZNF443):c.1979C>T (p.Ser660Phe)	ZNF443 (S660F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293841	NM_005815.5(ZNF443):c.1961G>A (p.Cys654Tyr)	ZNF443 (C654Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195821	NM_005815.5(ZNF443):c.1873T>A (p.Phe625Ile)	ZNF443 (F625I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309517	NM_005815.5(ZNF443):c.1849G>C (p.Glu617Gln)	ZNF443 (E617Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649340	NM_005815.5(ZNF443):c.1845G>A (p.Pro615=)	ZNF443	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3195820	NM_005815.5(ZNF443):c.1835G>T (p.Gly612Val)	ZNF443 (G612V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335095	NM_005815.5(ZNF443):c.1835G>C (p.Gly612Ala)	ZNF443 (G612A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649341	NM_005815.5(ZNF443):c.1830T>C (p.His610=)	ZNF443	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592864	NM_005815.5(ZNF443):c.1795C>G (p.His599Asp)	ZNF443 (H599D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614293	NM_005815.5(ZNF443):c.1655G>T (p.Arg552Ile)	ZNF443 (R552I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258129	NM_005815.5(ZNF443):c.1630T>A (p.Tyr544Asn)	ZNF443 (Y544N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361510	NM_005815.5(ZNF443):c.1613G>A (p.Arg538Lys)	ZNF443 (R538K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215647	NM_005815.5(ZNF443):c.1591C>A (p.Pro531Thr)	ZNF443 (P531T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592387	NM_005815.5(ZNF443):c.1544G>A (p.Arg515His)	ZNF443 (R515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258127	NM_005815.5(ZNF443):c.1543C>A (p.Arg515Ser)	ZNF443 (R515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233328	NM_005815.5(ZNF443):c.1532A>C (p.Lys511Thr)	ZNF443 (K511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195818	NM_005815.5(ZNF443):c.1508C>T (p.Pro503Leu)	ZNF443 (P503L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524917	NM_005815.5(ZNF443):c.1493A>C (p.His498Pro)	ZNF443 (H498P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336116	NM_005815.5(ZNF443):c.1493A>G (p.His498Arg)	ZNF443 (H498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343140	NM_005815.5(ZNF443):c.1449A>T (p.Lys483Asn)	ZNF443 (K483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258128	NM_005815.5(ZNF443):c.1343C>A (p.Pro448His)	ZNF443 (P448H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195817	NM_005815.5(ZNF443):c.1313G>T (p.Arg438Ile)	ZNF443 (R438I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387085	NM_005815.5(ZNF443):c.1273G>A (p.Val425Ile)	ZNF443 (V425I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256625	NM_005815.5(ZNF443):c.1258C>A (p.Pro420Thr)	ZNF443 (P420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258123	NM_005815.5(ZNF443):c.1239A>G (p.Ile413Met)	ZNF443 (I413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518882	NM_005815.5(ZNF443):c.1214G>C (p.Arg405Pro)	ZNF443 (R405P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258126	NM_005815.5(ZNF443):c.1145G>A (p.Ser382Asn)	ZNF443 (S382N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387198	NM_005815.5(ZNF443):c.1129C>T (p.Pro377Ser)	ZNF443 (P377S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543466	NM_005815.5(ZNF443):c.1127G>A (p.Cys376Tyr)	ZNF443 (C376Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258124	NM_005815.5(ZNF443):c.1072A>G (p.Arg358Gly)	ZNF443 (R358G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489850	NM_005815.5(ZNF443):c.1027G>A (p.Gly343Arg)	ZNF443 (G343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195816	NM_005815.5(ZNF443):c.1010A>G (p.Tyr337Cys)	ZNF443 (Y337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366688	NM_005815.5(ZNF443):c.980A>G (p.His327Arg)	ZNF443 (H327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195831	NM_005815.5(ZNF443):c.905C>A (p.Thr302Asn)	ZNF443 (T302N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195830	NM_005815.5(ZNF443):c.895C>T (p.His299Tyr)	ZNF443 (H299Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195829	NM_005815.5(ZNF443):c.878C>A (p.Ser293Tyr)	ZNF443 (S293Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195828	NM_005815.5(ZNF443):c.854A>G (p.Gln285Arg)	ZNF443 (Q285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195827	NM_005815.5(ZNF443):c.842A>G (p.Tyr281Cys)	ZNF443 (Y281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195826	NM_005815.5(ZNF443):c.823C>T (p.His275Tyr)	ZNF443 (H275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564187	NM_005815.5(ZNF443):c.788C>G (p.Pro263Arg)	ZNF443 (P263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195825	NM_005815.5(ZNF443):c.758A>G (p.Tyr253Cys)	ZNF443 (Y253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478514	NM_005815.5(ZNF443):c.734G>T (p.Arg245Ile)	ZNF443 (R245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276300	NM_005815.5(ZNF443):c.646G>A (p.Glu216Lys)	ZNF443 (E216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454494	NM_005815.5(ZNF443):c.626C>T (p.Pro209Leu)	ZNF443 (P209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195824	NM_005815.5(ZNF443):c.614C>T (p.Ala205Val)	ZNF443 (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330495	NM_005815.5(ZNF443):c.592A>C (p.Lys198Gln)	ZNF443 (K198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195823	NM_005815.5(ZNF443):c.568G>A (p.Val190Met)	ZNF443 (V190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258120	NM_005815.5(ZNF443):c.475C>T (p.His159Tyr)	ZNF443 (H159Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331755	NM_005815.5(ZNF443):c.466T>A (p.Phe156Ile)	ZNF443 (F156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325201	NM_005815.5(ZNF443):c.464C>T (p.Ser155Leu)	ZNF443 (S155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309089	NM_005815.5(ZNF443):c.449T>C (p.Phe150Ser)	ZNF443 (F150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258122	NM_005815.5(ZNF443):c.436C>T (p.Arg146Cys)	ZNF443 (R146C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330374	NM_005815.5(ZNF443):c.376G>T (p.Ala126Ser)	ZNF443 (A126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471198	NM_005815.5(ZNF443):c.317G>A (p.Ser106Asn)	ZNF443 (S106N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258125	NM_005815.5(ZNF443):c.271A>G (p.Ile91Val)	ZNF443 (I91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239657	NM_005815.5(ZNF443):c.268A>G (p.Ser90Gly)	ZNF443 (S90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475808	NM_005815.5(ZNF443):c.232A>G (p.Thr78Ala)	ZNF443 (T78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195822	NM_005815.5(ZNF443):c.199A>G (p.Met67Val)	ZNF443 (M67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466430	NM_005815.5(ZNF443):c.197G>A (p.Arg66His)	ZNF443 (R66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195819	NM_005815.5(ZNF443):c.169A>G (p.Arg57Gly)	ZNF443 (R57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302103	NM_005815.5(ZNF443):c.167A>G (p.Tyr56Cys)	ZNF443 (Y56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538719	NM_005815.5(ZNF443):c.70T>C (p.Cys24Arg)	ZNF443 (C24R)	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 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 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 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

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Items: 83