ZNF446[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 145872	GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1	LOC130065239, LOC130065240 +41 more	Copy number loss	See cases	GLikely benign
Select item 2361535	NM_017908.4(ZNF446):c.11C>T (p.Pro4Leu)	ZNF446 (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603748	NM_017908.4(ZNF446):c.17G>A (p.Gly6Asp)	ZNF446 (G6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258140	NM_017908.4(ZNF446):c.38T>C (p.Met13Thr)	ZNF446 (M13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239751	NM_017908.4(ZNF446):c.82C>T (p.Arg28Cys)	ZNF446 (R28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195870	NM_017908.4(ZNF446):c.89G>A (p.Arg30Gln)	ZNF446 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195854	NM_017908.4(ZNF446):c.107A>T (p.Glu36Val)	ZNF446 (E36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260210	NM_017908.4(ZNF446):c.108G>C (p.Glu36Asp)	ZNF446 (E36D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195856	NM_017908.4(ZNF446):c.110T>C (p.Val37Ala)	ZNF446 (V37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650590	NM_017908.4(ZNF446):c.117T>G (p.Gly39=)	ZNF446	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2391043	NM_017908.4(ZNF446):c.136C>T (p.Arg46Trp)	ZNF446 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601158	NM_017908.4(ZNF446):c.146A>G (p.Glu49Gly)	ZNF446 (E49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495757	NM_017908.4(ZNF446):c.169C>G (p.Pro57Ala)	ZNF446 (P57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483822	NM_017908.4(ZNF446):c.204G>A (p.Met68Ile)	ZNF446 (M68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623422	NM_017908.4(ZNF446):c.221T>G (p.Phe74Cys)	ZNF446 (F74C)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 2516580	NM_017908.4(ZNF446):c.277A>G (p.Ser93Gly)	ZNF446 (S93G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493157	NM_017908.4(ZNF446):c.308G>T (p.Gly103Val)	ZNF446 (G103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461823	NM_017908.4(ZNF446):c.347C>G (p.Thr116Arg)	ZNF446 (T116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371716	NM_017908.4(ZNF446):c.353A>G (p.His118Arg)	ZNF446 (H118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258144	NM_017908.4(ZNF446):c.436T>C (p.Ser146Pro)	ZNF446 (S146P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405172	NM_017908.4(ZNF446):c.449G>T (p.Gly150Val)	ZNF446 (G150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195865	NM_017908.4(ZNF446):c.487A>G (p.Ser163Gly)	ZNF446 (S163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195864	NM_017908.4(ZNF446):c.487A>C (p.Ser163Arg)	ZNF446 (S163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195866	NM_017908.4(ZNF446):c.491G>A (p.Cys164Tyr)	ZNF446 (C164Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258141	NM_017908.4(ZNF446):c.499A>G (p.Lys167Glu)	ZNF446 (K167E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556711	NM_017908.4(ZNF446):c.554C>G (p.Ala185Gly)	ZNF446 (A185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589664	NM_017908.4(ZNF446):c.584A>G (p.His195Arg)	ZNF446 (H195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343323	NM_017908.4(ZNF446):c.650G>A (p.Arg217Gln)	ZNF446 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258143	NM_017908.4(ZNF446):c.667T>C (p.Tyr223His)	ZNF446 (Y223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195868	NM_017908.4(ZNF446):c.719C>T (p.Pro240Leu)	ZNF446 (P240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195869	NM_017908.4(ZNF446):c.788G>A (p.Arg263Lys)	ZNF446 (R263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599530	NM_017908.4(ZNF446):c.853G>T (p.Gly285Cys)	ZNF446 (G285C)	Single nucleotide variant (missense variant +1 more)	Short stature	GUncertain significance
Select item 2260736	NM_017908.4(ZNF446):c.895A>G (p.Thr299Ala)	ZNF446 (T299A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195871	NM_017908.4(ZNF446):c.905C>A (p.Pro302His)	ZNF446 (P302H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195872	NM_017908.4(ZNF446):c.970C>A (p.Pro324Thr)	ZNF446 (P324T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650591	NM_017908.4(ZNF446):c.983C>T (p.Pro328Leu)	ZNF446 (P328L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2591313	NM_017908.4(ZNF446):c.1016G>A (p.Arg339His)	ZNF446 (R339H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462270	NM_017908.4(ZNF446):c.1018G>C (p.Gly340Arg)	ZNF446 (G340R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221701	NM_017908.4(ZNF446):c.1018G>A (p.Gly340Ser)	ZNF446 (G340S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308524	NM_017908.4(ZNF446):c.1019G>C (p.Gly340Ala)	ZNF446 (G340A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 599531	NM_017908.4(ZNF446):c.1028G>A (p.Trp343Ter)	ZNF446 (W343*)	Single nucleotide variant (nonsense +1 more)	Short stature	GPathogenic
Select item 2461294	NM_017908.4(ZNF446):c.1055G>A (p.Arg352Gln)	ZNF446 (R352Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355193	NM_017908.4(ZNF446):c.1055G>T (p.Arg352Leu)	ZNF446 (R352L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364876	NM_017908.4(ZNF446):c.1061A>G (p.His354Arg)	ZNF446 (H354R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305241	NM_017908.4(ZNF446):c.1064C>T (p.Thr355Met)	ZNF446 (T355M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195855	NM_017908.4(ZNF446):c.1091G>A (p.Gly364Glu)	ZNF446 (G364E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681667	NM_017908.4(ZNF446):c.1102G>A (p.Gly368Arg)	ZNF446 (G368R)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2618526	NM_017908.4(ZNF446):c.1151A>G (p.His384Arg)	ZNF446 (H384R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327497	NM_017908.4(ZNF446):c.1153C>G (p.Pro385Ala)	ZNF446 (P385A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596779	NM_017908.4(ZNF446):c.1159C>T (p.Arg387Cys)	ZNF446 (R387C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195857	NM_017908.4(ZNF446):c.1177C>T (p.Arg393Trp)	ZNF446 (R393W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258142	NM_017908.4(ZNF446):c.1183T>A (p.Tyr395Asn)	ZNF446 (Y395N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195858	NM_017908.4(ZNF446):c.1195G>A (p.Glu399Lys)	ZNF446 (E399K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195860	NM_017908.4(ZNF446):c.1207A>G (p.Ser403Gly)	ZNF446 (S403G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597423	NM_017908.4(ZNF446):c.1223C>T (p.Ser408Leu)	ZNF446 (S408L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 599532	NM_017908.4(ZNF446):c.1240C>T (p.Arg414Cys)	ZNF446 (R414C)	Single nucleotide variant (missense variant +1 more)	Short stature	GUncertain significance
Select item 2350145	NM_017908.4(ZNF446):c.1262G>A (p.Arg421Gln)	ZNF446 (R421Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195861	NM_017908.4(ZNF446):c.1323C>G (p.His441Gln)	ZNF446 (H441Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345238	NM_017908.4(ZNF446):c.1324C>T (p.Arg442Cys)	ZNF446 (R442C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195862	NM_017908.4(ZNF446):c.1325G>A (p.Arg442His)	ZNF446 (R442H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458502	NM_017908.4(ZNF446):c.1336C>T (p.Arg446Trp)	ZNF446 (R446W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 686497	GRCh37/hg19 19q13.43(chr19:58882821-58995308)x3	RPS5, ZNF132 +5 more	Copy number gain	not provided	GUncertain significance
Select item 394551	GRCh37/hg19 19q13.43(chr19:58980667-59030618)x3	SLC27A5, ZBTB45 +2 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 73