ZNF71[gene] - ClinVar

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Items: 70

	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 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
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 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 2299357	NM_001370215.1(ZNF71):c.206A>T (p.Asp69Val)	ZNF71, ZNF71-SMIM17 (D9V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777547	NM_001370215.1(ZNF71):c.212C>T (p.Ser71Leu)	ZNF71, ZNF71-SMIM17 (S11L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2597711	NM_001370215.1(ZNF71):c.241G>A (p.Ala81Thr)	ZNF71, ZNF71-SMIM17 (A21T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259313	NM_001370215.1(ZNF71):c.257C>T (p.Thr86Met)	ZNF71, ZNF71-SMIM17 (T86M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197921	NM_001370215.1(ZNF71):c.268G>A (p.Ala90Thr)	ZNF71, ZNF71-SMIM17 (A30T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510838	NM_001370215.1(ZNF71):c.275G>T (p.Gly92Val)	ZNF71, ZNF71-SMIM17 (G32V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613970	NM_001370215.1(ZNF71):c.307A>C (p.Ser103Arg)	ZNF71, ZNF71-SMIM17 (S103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206214	NM_001370215.1(ZNF71):c.313C>T (p.Pro105Ser)	ZNF71, ZNF71-SMIM17 (P105S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299056	NM_001370215.1(ZNF71):c.323C>T (p.Pro108Leu)	ZNF71, ZNF71-SMIM17 (P48L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197916	NM_001370215.1(ZNF71):c.325C>T (p.Arg109Trp)	ZNF71, ZNF71-SMIM17 (R109W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209851	NM_001370215.1(ZNF71):c.326G>A (p.Arg109Gln)	ZNF71, ZNF71-SMIM17 (R49Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338722	NM_001370215.1(ZNF71):c.389G>A (p.Gly130Asp)	ZNF71, ZNF71-SMIM17 (G130D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588244	NM_001370215.1(ZNF71):c.434G>A (p.Gly145Asp)	ZNF71, ZNF71-SMIM17 (G145D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594215	NM_001370215.1(ZNF71):c.467C>T (p.Pro156Leu)	ZNF71, ZNF71-SMIM17 (P156L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197917	NM_001370215.1(ZNF71):c.481G>T (p.Ala161Ser)	ZNF71, ZNF71-SMIM17 (A101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197918	NM_001370215.1(ZNF71):c.500G>A (p.Arg167His)	ZNF71, ZNF71-SMIM17 (R107H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259316	NM_001370215.1(ZNF71):c.511T>A (p.Phe171Ile)	ZNF71, ZNF71-SMIM17 (F171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197919	NM_001370215.1(ZNF71):c.535A>G (p.Lys179Glu)	ZNF71, ZNF71-SMIM17 (K119E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522652	NM_001370215.1(ZNF71):c.553G>A (p.Glu185Lys)	ZNF71, ZNF71-SMIM17 (E185K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259315	NM_001370215.1(ZNF71):c.724G>A (p.Gly242Ser)	ZNF71, ZNF71-SMIM17 (G242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197920	NM_001370215.1(ZNF71):c.838G>A (p.Gly280Ser)	ZNF71, ZNF71-SMIM17 (G220S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259318	NM_001370215.1(ZNF71):c.874C>T (p.His292Tyr)	ZNF71, ZNF71-SMIM17 (H232Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547490	NM_001370215.1(ZNF71):c.877G>C (p.Glu293Gln)	ZNF71, ZNF71-SMIM17 (E293Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223667	NM_001370215.1(ZNF71):c.899A>G (p.Lys300Arg)	ZNF71, ZNF71-SMIM17 (K300R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613186	NM_001370215.1(ZNF71):c.913G>C (p.Gly305Arg)	ZNF71, ZNF71-SMIM17 (G245R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458503	NM_001370215.1(ZNF71):c.916G>T (p.Asp306Tyr)	ZNF71, ZNF71-SMIM17 (D306Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522095	NM_001370215.1(ZNF71):c.950T>C (p.Leu317Pro)	ZNF71, ZNF71-SMIM17 (L257P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214066	NM_001370215.1(ZNF71):c.952A>G (p.Ile318Val)	ZNF71, ZNF71-SMIM17 (I318V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533516	NM_001370215.1(ZNF71):c.997C>T (p.Pro333Ser)	ZNF71, ZNF71-SMIM17 (P333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197922	NM_001370215.1(ZNF71):c.1128C>G (p.His376Gln)	ZNF71, ZNF71-SMIM17 (H376Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197923	NM_001370215.1(ZNF71):c.1129C>G (p.Gln377Glu)	ZNF71, ZNF71-SMIM17 (Q317E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197913	NM_001370215.1(ZNF71):c.1191G>C (p.Gln397His)	ZNF71, ZNF71-SMIM17 (Q337H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480618	NM_001370215.1(ZNF71):c.1215G>T (p.Gln405His)	ZNF71, ZNF71-SMIM17 (Q345H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514452	NM_001370215.1(ZNF71):c.1231G>T (p.Val411Leu)	ZNF71, ZNF71-SMIM17 (V411L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370932	NM_001370215.1(ZNF71):c.1283C>T (p.Ser428Leu)	ZNF71, ZNF71-SMIM17 (S368L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235823	NM_001370215.1(ZNF71):c.1415G>A (p.Cys472Tyr)	ZNF71, ZNF71-SMIM17 (C412Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197915	NM_001370215.1(ZNF71):c.1480G>A (p.Gly494Ser)	ZNF71, ZNF71-SMIM17 (G494S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259314	NM_001370215.1(ZNF71):c.1516T>A (p.Ser506Thr)	ZNF71, ZNF71-SMIM17 (S446T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274308	NM_001370215.1(ZNF71):c.1565G>T (p.Gly522Val)	ZNF71, ZNF71-SMIM17 (G462V +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 1526672	GRCh37/hg19 19q13.43(chr19:56332200-57126728)	GALP, NLRP11 +15 more	Copy number gain	not specified	GUncertain significance
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)	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 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

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Items: 70