ZNF415[gene] - ClinVar

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Items: 65

	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 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 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 2410786	NM_018355.4(ZNF415):c.1658A>G (p.Lys553Arg)	ZNF415 (K553R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335685	NM_018355.4(ZNF415):c.1649A>C (p.Lys550Thr)	ZNF415 (K537T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195600	NM_018355.4(ZNF415):c.1640C>G (p.Thr547Ser)	ZNF415 (T583S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466433	NM_018355.4(ZNF415):c.1630A>G (p.Ile544Val)	ZNF415 (I580V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360375	NM_018355.4(ZNF415):c.1606C>T (p.Arg536Cys)	ZNF415 (R548C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232565	NM_018355.4(ZNF415):c.1552C>T (p.His518Tyr)	ZNF415 (H518Y +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383763	NM_018355.4(ZNF415):c.1454C>T (p.Thr485Ile)	ZNF415 (T255I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195599	NM_018355.4(ZNF415):c.1421G>T (p.Gly474Val)	ZNF415 (G510V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392174	NM_018355.4(ZNF415):c.1332G>C (p.Glu444Asp)	ZNF415 (E214D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249987	NM_018355.4(ZNF415):c.1322A>G (p.Lys441Arg)	ZNF415 (K211R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314589	NM_018355.4(ZNF415):c.1311G>T (p.Glu437Asp)	ZNF415 (E424D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459884	NM_018355.4(ZNF415):c.1301A>G (p.His434Arg)	ZNF415 (H446R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408576	NM_018355.4(ZNF415):c.1250G>A (p.Cys417Tyr)	ZNF415 (C429Y +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302355	NM_018355.4(ZNF415):c.1208G>C (p.Trp403Ser)	ZNF415 (W439S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398064	NM_018355.4(ZNF415):c.1147C>A (p.Pro383Thr)	ZNF415 (P383T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549647	NM_018355.4(ZNF415):c.1129A>G (p.Ile377Val)	ZNF415 (I413V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363619	NM_018355.4(ZNF415):c.1096A>G (p.Ser366Gly)	ZNF415 (S443G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591533	NM_018355.4(ZNF415):c.1088A>G (p.Lys363Arg)	ZNF415 (K350R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237936	NM_018355.4(ZNF415):c.1072T>C (p.Cys358Arg)	ZNF415 (C370R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195597	NM_018355.4(ZNF415):c.1051A>G (p.Ser351Gly)	ZNF415 (S363G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454823	NM_018355.4(ZNF415):c.986C>T (p.Thr329Ile)	ZNF415 (T316I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292323	NM_018355.4(ZNF415):c.960A>C (p.Lys320Asn)	ZNF415 (K397N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335689	NM_018355.4(ZNF415):c.953A>C (p.His318Pro)	ZNF415 (H318P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335683	NM_018355.4(ZNF415):c.877G>A (p.Val293Ile)	ZNF415 (V280I +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366786	NM_018355.4(ZNF415):c.872G>A (p.Arg291Gln)	ZNF415 (R339Q +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335688	NM_018355.4(ZNF415):c.848G>A (p.Arg283His)	ZNF415 (R270H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257469	NM_018355.4(ZNF415):c.847C>T (p.Arg283Cys)	ZNF415 (R319C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195605	NM_018355.4(ZNF415):c.839G>C (p.Ser280Thr)	ZNF415 (S357T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195604	NM_018355.4(ZNF415):c.782G>A (p.Arg261His)	ZNF415 (R261H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335687	NM_018355.4(ZNF415):c.778G>A (p.Ala260Thr)	ZNF415 (A260T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396596	NM_018355.4(ZNF415):c.754G>A (p.Val252Ile)	ZNF415 (V298I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605771	NM_018355.4(ZNF415):c.706G>T (p.Val236Leu)	ZNF415 (V282L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195603	NM_018355.4(ZNF415):c.527C>T (p.Ser176Leu)	ZNF415 (S163L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195602	NM_018355.4(ZNF415):c.477T>G (p.Ile159Met)	ZNF415 (I159M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532959	NM_018355.4(ZNF415):c.373C>A (p.Arg125Ser)	ZNF415 (R171S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218318	NM_018355.4(ZNF415):c.367G>T (p.Asp123Tyr)	ZNF415 (D110Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555094	NM_018355.4(ZNF415):c.329T>C (p.Val110Ala)	ZNF415 (V156A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2556673	NM_018355.4(ZNF415):c.317A>G (p.Asn106Ser)	ZNF415 (N183S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513763	NM_018355.4(ZNF415):c.287T>G (p.Phe96Cys)	ZNF415 (F142C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195601	NM_018355.4(ZNF415):c.164A>T (p.Glu55Val)	ZNF415 (E42V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244314	NM_018355.4(ZNF415):c.139C>A (p.Leu47Met)	ZNF415 (L34M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606209	NM_018355.4(ZNF415):c.125T>C (p.Leu42Pro)	ZNF415 (L88P +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3335686	NM_018355.4(ZNF415):c.68T>C (p.Leu23Pro)	ZNF415 (L23P +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3335682	NM_018355.4(ZNF415):c.55G>A (p.Glu19Lys)	ZNF415 (E19K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365290	NM_018355.4(ZNF415):c.40G>A (p.Glu14Lys)	ZNF415 (E60K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606772	NM_018355.4(ZNF415):c.31G>A (p.Val11Met)	ZNF415 (V11M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379330	NM_018355.4(ZNF415):c.15+248A>T	ZNF415 (D2V)	Single nucleotide variant (missense variant +2 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 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 393726	GRCh37/hg19 19q13.42(chr19:53606604-53636067)x3	ZNF160, ZNF415	Copy number gain	See cases	GBenign

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Items: 65