ZNF473[gene] - ClinVar

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Items: 71

	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 157456	NM_001025778.1(VRK3):c.-376583_-65+1628dup	IZUMO2, KCNC3 +46 more	Duplication	Normal pregnancy	Gnot provided
Select item 3196041	NM_015428.4(ZNF473):c.100A>G (p.Thr34Ala)	ZNF473 (T22A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196046	NM_015428.4(ZNF473):c.148C>T (p.Pro50Ser)	ZNF473 (P38S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302357	NM_015428.4(ZNF473):c.218C>T (p.Thr73Ile)	ZNF473 (T73I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258331	NM_015428.4(ZNF473):c.237G>C (p.Glu79Asp)	ZNF473 (E79D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470329	NM_015428.4(ZNF473):c.343G>A (p.Ala115Thr)	ZNF473 (A103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258329	NM_015428.4(ZNF473):c.434C>T (p.Thr145Met)	ZNF473 (T133M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556311	NM_015428.4(ZNF473):c.469A>G (p.Ser157Gly)	ZNF473 (S145G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196051	NM_015428.4(ZNF473):c.487T>A (p.Ser163Thr)	ZNF473 (S163T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517784	NM_015428.4(ZNF473):c.560G>A (p.Arg187Lys)	ZNF473 (R175K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219779	NM_015428.4(ZNF473):c.565G>A (p.Glu189Lys)	ZNF473 (E189K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340559	NM_015428.4(ZNF473):c.566A>G (p.Glu189Gly)	ZNF473 (E177G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650300	NM_015428.4(ZNF473):c.582C>T (p.Ser194=)	ZNF473	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389275	NM_015428.4(ZNF473):c.661A>C (p.Ser221Arg)	ZNF473 (S209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258333	NM_015428.4(ZNF473):c.706C>G (p.Pro236Ala)	ZNF473 (P224A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258330	NM_015428.4(ZNF473):c.760G>A (p.Val254Met)	ZNF473 (V254M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216420	NM_015428.4(ZNF473):c.792C>G (p.Phe264Leu)	ZNF473 (F252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258325	NM_015428.4(ZNF473):c.878A>T (p.Lys293Met)	ZNF473 (K293M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219665	NM_015428.4(ZNF473):c.905G>A (p.Ser302Asn)	ZNF473 (S302N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530661	NM_015428.4(ZNF473):c.929A>T (p.His310Leu)	ZNF473 (H310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268358	NM_015428.4(ZNF473):c.944C>A (p.Thr315Lys)	ZNF473 (T303K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374996	NM_015428.4(ZNF473):c.970G>A (p.Glu324Lys)	ZNF473 (E324K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258326	NM_015428.4(ZNF473):c.1028C>T (p.Thr343Ile)	ZNF473 (T331I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196042	NM_015428.4(ZNF473):c.1030C>T (p.Arg344Trp)	ZNF473 (R332W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216256	NM_015428.4(ZNF473):c.1031G>A (p.Arg344Gln)	ZNF473 (R344Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196043	NM_015428.4(ZNF473):c.1039T>C (p.Tyr347His)	ZNF473 (Y347H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476647	NM_015428.4(ZNF473):c.1064C>T (p.Thr355Ile)	ZNF473 (T343I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650301	NM_015428.4(ZNF473):c.1173T>C (p.Ile391=)	ZNF473	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2544245	NM_015428.4(ZNF473):c.1190A>G (p.His397Arg)	ZNF473 (H397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258956	NM_015428.4(ZNF473):c.1208A>T (p.Tyr403Phe)	ZNF473 (Y391F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302983	NM_015428.4(ZNF473):c.1222C>T (p.Arg408Cys)	ZNF473 (R396C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339647	NM_015428.4(ZNF473):c.1249A>T (p.Thr417Ser)	ZNF473 (T417S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650302	NM_015428.4(ZNF473):c.1251C>G (p.Thr417=)	ZNF473	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3196044	NM_015428.4(ZNF473):c.1269G>C (p.Arg423Ser)	ZNF473 (R423S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491089	NM_015428.4(ZNF473):c.1352G>A (p.Arg451Gln)	ZNF473 (R439Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196045	NM_015428.4(ZNF473):c.1381T>C (p.Cys461Arg)	ZNF473 (C449R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597987	NM_015428.4(ZNF473):c.1393G>A (p.Val465Ile)	ZNF473 (V465I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615220	NM_015428.4(ZNF473):c.1439T>G (p.Ile480Ser)	ZNF473 (I468S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358310	NM_015428.4(ZNF473):c.1561G>A (p.Gly521Arg)	ZNF473 (G521R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196047	NM_015428.4(ZNF473):c.1579G>T (p.Gly527Cys)	ZNF473 (G515C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513922	NM_015428.4(ZNF473):c.1630T>C (p.Phe544Leu)	ZNF473 (F544L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332965	NM_015428.4(ZNF473):c.1691G>A (p.Cys564Tyr)	ZNF473 (C552Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361495	NM_015428.4(ZNF473):c.1813C>T (p.Arg605Trp)	ZNF473 (R593W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215209	NM_015428.4(ZNF473):c.1919A>C (p.His640Pro)	ZNF473 (H628P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616034	NM_015428.4(ZNF473):c.1948G>A (p.Glu650Lys)	ZNF473 (E638K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196048	NM_015428.4(ZNF473):c.2081G>A (p.Arg694Gln)	ZNF473 (R694Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374148	NM_015428.4(ZNF473):c.2102C>T (p.Pro701Leu)	ZNF473 (P689L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196049	NM_015428.4(ZNF473):c.2211G>C (p.Lys737Asn)	ZNF473 (K737N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326846	NM_015428.4(ZNF473):c.2218G>A (p.Gly740Ser)	ZNF473 (G740S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258328	NM_015428.4(ZNF473):c.2335G>A (p.Val779Ile)	ZNF473 (V767I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 221311	NM_015428.4(ZNF473):c.2359A>T (p.Arg787Ter)	ZNF473 (R775* +1 more)	Single nucleotide variant (nonsense)	Breast ductal adenocarcinoma	GUncertain significance
Select item 3258327	NM_015428.4(ZNF473):c.2431G>C (p.Glu811Gln)	ZNF473 (E799Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253161	NM_015428.4(ZNF473):c.2462A>G (p.Lys821Arg)	ZNF473 (K821R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3258332	NM_015428.4(ZNF473):c.2555G>A (p.Arg852Gln)	ZNF473 (R840Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
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 2426877	NC_000019.9:g.(?_50411496)_(50766697_?)dup	ATF5, IL4I1 +6 more	Duplication	not provided	GUncertain significance
Select item 1526671	GRCh37/hg19 19q13.33(chr19:50355646-50552140)	AKT1S1, ATF5 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	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 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
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 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
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 394002	GRCh37/hg19 19q13.33(chr19:50391979-50665993)x3	ATF5, IL4I1 +6 more	Copy number gain	See cases	GUncertain significance

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Items: 71