140467[Gene ID] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 2238904	NM_018083.5(ZNF358):c.8G>A (p.Arg3His)	ZNF358 (R3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595254	NM_018083.5(ZNF358):c.19G>C (p.Val7Leu)	ZNF358 (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335597	NM_018083.5(ZNF358):c.29C>G (p.Pro10Arg)	ZNF358 (P10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195384	NM_018083.5(ZNF358):c.47G>A (p.Arg16Lys)	ZNF358 (R16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517597	NM_018083.5(ZNF358):c.49C>A (p.Pro17Thr)	ZNF358 (P17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195386	NM_018083.5(ZNF358):c.52G>A (p.Val18Ile)	ZNF358 (V18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561663	NM_018083.5(ZNF358):c.107T>C (p.Leu36Pro)	ZNF358 (L36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775403	NM_018083.5(ZNF358):c.111C>T (p.Asp37=)	ZNF358	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3195383	NM_018083.5(ZNF358):c.188A>T (p.Asp63Val)	ZNF358 (D63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782557	NM_018083.5(ZNF358):c.201C>G (p.Val67=)	ZNF358	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2357869	NM_018083.5(ZNF358):c.226G>A (p.Glu76Lys)	ZNF358 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399953	NM_018083.5(ZNF358):c.253C>T (p.Pro85Ser)	ZNF358 (P85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560501	NM_018083.5(ZNF358):c.260C>T (p.Pro87Leu)	ZNF358 (P87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681665	NM_018083.5(ZNF358):c.269C>T (p.Ser90Leu)	ZNF358 (S90L)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2649160	NM_018083.5(ZNF358):c.345C>T (p.Pro115=)	ZNF358	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240742	NM_018083.5(ZNF358):c.361G>T (p.Asp121Tyr)	ZNF358 (D121Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237358	NM_018083.5(ZNF358):c.377G>A (p.Gly126Asp)	ZNF358 (G126D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355562	NM_018083.5(ZNF358):c.404C>T (p.Ala135Val)	ZNF358 (A135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335594	NM_018083.5(ZNF358):c.476C>A (p.Ala159Asp)	ZNF358 (A159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195385	NM_018083.5(ZNF358):c.482G>T (p.Arg161Leu)	ZNF358 (R161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335591	NM_018083.5(ZNF358):c.484C>G (p.Arg162Gly)	ZNF358 (R162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335593	NM_018083.5(ZNF358):c.489C>G (p.Ser163Arg)	ZNF358 (S163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195387	NM_018083.5(ZNF358):c.538C>A (p.Arg180Ser)	ZNF358 (R180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615240	NM_018083.5(ZNF358):c.570C>G (p.His190Gln)	ZNF358 (H190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195388	NM_018083.5(ZNF358):c.713C>T (p.Pro238Leu)	ZNF358 (P238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361277	NM_018083.5(ZNF358):c.811G>T (p.Gly271Cys)	ZNF358 (G271C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335596	NM_018083.5(ZNF358):c.835C>T (p.Leu279Phe)	ZNF358 (L279F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282147	NM_018083.5(ZNF358):c.856A>G (p.Thr286Ala)	ZNF358 (T286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338335	NM_018083.5(ZNF358):c.967C>A (p.His323Asn)	ZNF358 (H323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273840	NM_018083.5(ZNF358):c.1114G>A (p.Glu372Lys)	ZNF358 (E372K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299053	NM_018083.5(ZNF358):c.1153G>A (p.Gly385Ser)	ZNF358 (G385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615753	NM_018083.5(ZNF358):c.1177C>T (p.His393Tyr)	ZNF358 (H393Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388338	NM_018083.5(ZNF358):c.1186G>C (p.Val396Leu)	ZNF358 (V396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694886	NM_018083.5(ZNF358):c.1200A>G (p.Ala400=)	ZNF358	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649161	NM_018083.5(ZNF358):c.1209T>A (p.Ala403=)	ZNF358	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649162	NM_018083.5(ZNF358):c.1215_1241del (p.Ala408_Ala416del)	ZNF358	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2395101	NM_018083.5(ZNF358):c.1222G>C (p.Ala408Pro)	ZNF358 (A408P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195378	NM_018083.5(ZNF358):c.1228G>A (p.Ala410Thr)	ZNF358 (A410T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320277	NM_018083.5(ZNF358):c.1318C>T (p.Pro440Ser)	ZNF358 (P440S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412483	NM_018083.5(ZNF358):c.1355T>A (p.Leu452His)	ZNF358 (L452H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195379	NM_018083.5(ZNF358):c.1378C>T (p.Arg460Cys)	ZNF358 (R460C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195380	NM_018083.5(ZNF358):c.1456C>A (p.Pro486Thr)	ZNF358 (P486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335592	NM_018083.5(ZNF358):c.1459A>G (p.Ser487Gly)	ZNF358 (S487G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195381	NM_018083.5(ZNF358):c.1478C>A (p.Ser493Tyr)	ZNF358 (S493Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195382	NM_018083.5(ZNF358):c.1537G>A (p.Asp513Asn)	ZNF358 (D513N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286661	NM_018083.5(ZNF358):c.1557C>A (p.Asp519Glu)	ZNF358 (D519E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544362	NM_018083.5(ZNF358):c.1643T>C (p.Leu548Pro)	ZNF358 (L548P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335595	NM_018083.5(ZNF358):c.1646C>T (p.Pro549Leu)	ZNF358 (P549L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289473	NM_018083.5(ZNF358):c.1681G>A (p.Gly561Arg)	ZNF358 (G561R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248423	NC_000019.9:g.(?_7504827)_(7712696_?)del	ARHGEF18, CAMSAP3 +9 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2423795	NC_000019.9:g.(?_7527018)_(7624057_?)dup	ZNF358, SAXO5 +4 more	Duplication	Hereditary spastic paraplegia 39	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
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

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Items: 58