ZNF468[gene] - ClinVar

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Items: 62

	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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 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 145088	GRCh38/hg38 19q13.41(chr19:52616146-52929716)x3	LOC122539214, LOC125384532 +15 more	Copy number gain	See cases	GUncertain significance
Select item 58343	GRCh38/hg38 19q13.41-13.42(chr19:52707235-53192628)x1	ERVFRD-2, ERVV-1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 145197	GRCh38/hg38 19q13.41(chr19:52824788-52849347)x3	ZNF468, ZNF600	Copy number gain	See cases	GBenign
Select item 2588190	NM_001008801.2(ZNF468):c.1531G>A (p.Val511Ile)	ZNF468 (V511I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2265507	NM_001008801.2(ZNF468):c.1456C>T (p.Arg486Cys)	ZNF468 (R486C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374027	NM_001008801.2(ZNF468):c.1448T>G (p.Ile483Arg)	ZNF468 (I483R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549917	NM_001008801.2(ZNF468):c.1430G>T (p.Gly477Val)	ZNF468 (G477V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454960	NM_001008801.2(ZNF468):c.1408A>G (p.Asn470Asp)	ZNF468 (N470D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347303	NM_001008801.2(ZNF468):c.1346A>G (p.Gln449Arg)	ZNF468 (Q449R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258189	NM_001008801.2(ZNF468):c.1247G>C (p.Cys416Ser)	ZNF468 (C416S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258188	NM_001008801.2(ZNF468):c.1132A>G (p.Thr378Ala)	ZNF468 (T378A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598250	NM_001008801.2(ZNF468):c.1045C>T (p.His349Tyr)	ZNF468 (H349Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195969	NM_001008801.2(ZNF468):c.950A>G (p.His317Arg)	ZNF468 (H317R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283517	NM_001008801.2(ZNF468):c.916A>G (p.Lys306Glu)	ZNF468 (K306E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195968	NM_001008801.2(ZNF468):c.878A>G (p.His293Arg)	ZNF468 (H293R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347306	NM_001008801.2(ZNF468):c.875T>C (p.Leu292Pro)	ZNF468 (L292P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465214	NM_001008801.2(ZNF468):c.872C>G (p.Ala291Gly)	ZNF468 (A291G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510812	NM_001008801.2(ZNF468):c.862A>C (p.Ile288Leu)	ZNF468 (I288L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359232	NM_001008801.2(ZNF468):c.760C>A (p.Gln254Lys)	ZNF468 (Q254K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378192	NM_001008801.2(ZNF468):c.743G>A (p.Cys248Tyr)	ZNF468 (C248Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195967	NM_001008801.2(ZNF468):c.703A>G (p.Ile235Val)	ZNF468 (I235V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454195	NM_001008801.2(ZNF468):c.670T>C (p.Phe224Leu)	ZNF468 (F224L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258187	NM_001008801.2(ZNF468):c.660C>G (p.Ser220Arg)	ZNF468 (S220R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348335	NM_001008801.2(ZNF468):c.593A>C (p.His198Pro)	ZNF468 (H198P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221281	NM_001008801.2(ZNF468):c.593A>G (p.His198Arg)	ZNF468 (H198R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195966	NM_001008801.2(ZNF468):c.526A>G (p.Thr176Ala)	ZNF468 (T176A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605887	NM_001008801.2(ZNF468):c.505A>T (p.Asn169Tyr)	ZNF468 (N169Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559348	NM_001008801.2(ZNF468):c.502A>G (p.Ile168Val)	ZNF468 (I168V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259666	NM_001008801.2(ZNF468):c.473G>A (p.Gly158Glu)	ZNF468 (G158E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217171	NM_001008801.2(ZNF468):c.467C>T (p.Ser156Phe)	ZNF468 (S156F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2650398	NM_001008801.2(ZNF468):c.456C>T (p.His152=)	ZNF468	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2461844	NM_001008801.2(ZNF468):c.454C>T (p.His152Tyr)	ZNF468 (H152Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347305	NM_001008801.2(ZNF468):c.451C>T (p.Pro151Ser)	ZNF468 (P151S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342773	NM_001008801.2(ZNF468):c.395G>A (p.Gly132Glu)	ZNF468 (G132E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347304	NM_001008801.2(ZNF468):c.348C>G (p.Ile116Met)	ZNF468 (I116M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293291	NM_001008801.2(ZNF468):c.303G>C (p.Trp101Cys)	ZNF468 (W101C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371419	NM_001008801.2(ZNF468):c.292G>A (p.Glu98Lys)	ZNF468 (E98K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235440	NM_001008801.2(ZNF468):c.149C>T (p.Ser50Phe)	ZNF468 (S50F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464641	NM_001008801.2(ZNF468):c.143A>C (p.Asp48Ala)	ZNF468 (D48A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195964	NM_001008801.2(ZNF468):c.133G>A (p.Val45Ile)	ZNF468 (V45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313956	NM_001008801.2(ZNF468):c.111G>A (p.Met37Ile)	ZNF468 (M37I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258186	NM_001008801.2(ZNF468):c.44T>C (p.Ile15Thr)	ZNF468 (I15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607498	NM_001008801.2(ZNF468):c.31A>G (p.Arg11Gly)	ZNF468 (R11G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258190	NM_001008801.2(ZNF468):c.27A>G (p.Thr9=)	ZNF468	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809022	GRCh37/hg19 19q13.41(chr19:53330669-53398769)x1	ZNF320, ZNF468	Copy number loss	not provided	GUncertain significance
Select item 1808067	GRCh37/hg19 19q13.41(chr19:53312370-53370013)x1	ZNF28, ZNF468	Copy number loss	not provided	GUncertain significance
Select item 980769	GRCh37/hg19 19q13.41(chr19:53057478-53428612)x1	ZNF28, ZNF320 +7 more	Copy number loss	not provided	GLikely benign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 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
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: 62