ClinVar for Gene (Select 57573) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196040	NM_020813.4(ZNF471):c.799T>G (p.Cys267Gly)	ZNF471 (C193G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196039	NM_020813.4(ZNF471):c.749C>T (p.Ala250Val)	ZNF471 (A176V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196038	NM_020813.4(ZNF471):c.446A>G (p.His149Arg)	ZNF471 (H149R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196037	NM_020813.4(ZNF471):c.214C>A (p.Pro72Thr)	ZNF471 (P72T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196036	NM_020813.4(ZNF471):c.1837T>C (p.Ser613Pro)	LOC126862941, ZNF471 (S613P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196035	NM_020813.4(ZNF471):c.1682A>G (p.His561Arg)	LOC126862941, ZNF471 (H487R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196034	NM_020813.4(ZNF471):c.1631A>C (p.Glu544Ala)	LOC126862941, ZNF471 (E470A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196033	NM_020813.4(ZNF471):c.1265A>C (p.Gln422Pro)	ZNF471 (Q348P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196032	NM_020813.4(ZNF471):c.1241C>T (p.Ser414Leu)	ZNF471 (S340L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196031	NM_020813.4(ZNF471):c.1205C>T (p.Pro402Leu)	ZNF471 (P328L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196030	NM_020813.4(ZNF471):c.1193C>G (p.Thr398Arg)	ZNF471 (T324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196029	NM_020813.4(ZNF471):c.1067G>T (p.Arg356Met)	ZNF471 (R356M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196028	NM_020813.4(ZNF471):c.1004G>A (p.Arg335Gln)	ZNF471 (R335Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 2684894	GRCh37/hg19 19q13.43(chr19:56949121-57419586)x3	PEG3, SMIM17 +8 more	Copy number gain	not provided	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 2650564	NM_020813.4(ZNF471):c.1548A>G (p.Glu516=)	ZNF471	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650563	NM_020813.4(ZNF471):c.1423G>C (p.Val475Leu)	ZNF471 (V401L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650562	NM_020813.4(ZNF471):c.926A>G (p.Gln309Arg)	ZNF471 (Q235R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615161	NM_020813.4(ZNF471):c.500G>A (p.Cys167Tyr)	ZNF471 (C167Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611914	NM_020813.4(ZNF471):c.1153A>G (p.Ser385Gly)	ZNF471 (S311G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569717	NM_020813.4(ZNF471):c.1550G>A (p.Cys517Tyr)	ZNF471 (C517Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528869	NM_020813.4(ZNF471):c.1120C>A (p.Pro374Thr)	ZNF471 (P300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492012	NM_020813.4(ZNF471):c.982A>G (p.Ser328Gly)	ZNF471 (S254G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489455	NM_020813.4(ZNF471):c.1139G>A (p.Cys380Tyr)	ZNF471 (C380Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479936	NM_020813.4(ZNF471):c.892G>A (p.Ala298Thr)	ZNF471 (A224T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469377	NM_020813.4(ZNF471):c.1297T>C (p.Cys433Arg)	ZNF471 (C433R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461529	NM_020813.4(ZNF471):c.1268G>A (p.Arg423Lys)	ZNF471 (R349K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411836	NM_020813.4(ZNF471):c.1120C>G (p.Pro374Ala)	ZNF471 (P374A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409335	NM_020813.4(ZNF471):c.1236C>G (p.Phe412Leu)	ZNF471 (F338L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384943	NM_020813.4(ZNF471):c.1774C>G (p.Leu592Val)	LOC126862941, ZNF471 (L592V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364279	NM_020813.4(ZNF471):c.432A>T (p.Lys144Asn)	ZNF471 (K70N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363064	NM_020813.4(ZNF471):c.770C>A (p.Thr257Asn)	ZNF471 (T257N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356275	NM_020813.4(ZNF471):c.627T>G (p.Asn209Lys)	ZNF471 (N135K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351181	NM_020813.4(ZNF471):c.1052G>C (p.Cys351Ser)	ZNF471 (C277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337245	NM_020813.4(ZNF471):c.1856G>T (p.Arg619Ile)	LOC126862941, ZNF471 (R545I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328610	NM_020813.4(ZNF471):c.722A>C (p.Lys241Thr)	ZNF471 (K241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279960	NM_020813.4(ZNF471):c.1624C>T (p.Pro542Ser)	LOC126862941, ZNF471 (P542S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270130	NM_020813.4(ZNF471):c.791G>A (p.Cys264Tyr)	ZNF471 (C190Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232566	NM_020813.4(ZNF471):c.683A>C (p.His228Pro)	ZNF471 (H228P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232221	NM_020813.4(ZNF471):c.1259T>C (p.Val420Ala)	ZNF471 (V346A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204481	NM_020813.4(ZNF471):c.742C>T (p.His248Tyr)	ZNF471 (H174Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526672	GRCh37/hg19 19q13.43(chr19:56332200-57126728)	GALP, NLRP11 +15 more	Copy number gain	not specified	GUncertain significance
Select item 980775	GRCh37/hg19 19q13.43(chr19:56792817-57074724)x3	ZFP28, ZNF471 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 816096	GRCh37/hg19 19q13.43(chr19:56788816-57277655)x3	SMIM17, ZNF71 +8 more	Copy number gain	not provided	GLikely benign
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564598	GRCh37/hg19 19q13.43(chr19:56565455-57401997)x1	ZNF667, ZNF471 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 442366	GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3	GALP, NLRP11 +21 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
Select item 394098	GRCh37/hg19 19q13.43(chr19:56874577-57183789)x3	SMIM17, ZFP28 +8 more	Copy number gain	See cases	GUncertain significance
Select item 221405	GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	NLRP5, NLRP8 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
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 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	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 72