ClinVar for Gene (Select 90333) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 145197	GRCh38/hg38 19q13.41(chr19:52824788-52849347)x3	ZNF468, ZNF600	Copy number gain	See cases	GBenign
Select item 145088	GRCh38/hg38 19q13.41(chr19:52616146-52929716)x3	LOC122539214, LOC125384532 +15 more	Copy number gain	See cases	GUncertain significance
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 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
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 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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 62