ZNF671[gene] - ClinVar

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Items: 59

	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 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 152853	GRCh38/hg38 19q13.43(chr19:57546443-57889946)x3	LOC125384550, LOC126862946 +37 more	Copy number gain	See cases	GUncertain significance
Select item 58806	GRCh38/hg38 19q13.43(chr19:57674103-57871262)x3	LOC125384550, LOC126862947 +20 more	Copy number gain	See cases	GUncertain significance
Select item 150291	GRCh38/hg38 19q13.43(chr19:57712726-57952004)x3	LOC125384550, LOC126862947 +23 more	Copy number gain	See cases	GLikely benign
Select item 2466562	NM_024833.3(ZNF671):c.1543G>A (p.Glu515Lys)	ZNF671 (E417K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197617	NM_024833.3(ZNF671):c.1357T>C (p.Cys453Arg)	ZNF671 (C355R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216213	NM_024833.3(ZNF671):c.1310G>T (p.Ser437Ile)	ZNF671 (S339I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217737	NM_024833.3(ZNF671):c.1234C>T (p.Leu412Phe)	ZNF671 (L335F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769060	NM_024833.3(ZNF671):c.1208G>A (p.Gly403Glu)	ZNF671 (G326E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790766	NM_024833.3(ZNF671):c.1191T>C (p.Tyr397=)	ZNF671	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2389745	NM_024833.3(ZNF671):c.1189T>C (p.Tyr397His)	ZNF671 (Y397H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259129	NM_024833.3(ZNF671):c.1106A>G (p.Tyr369Cys)	ZNF671 (Y292C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397351	NM_024833.3(ZNF671):c.1091C>T (p.Thr364Met)	ZNF671 (T364M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375829	NM_024833.3(ZNF671):c.1031G>A (p.Ser344Asn)	ZNF671 (S344N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209298	NM_024833.3(ZNF671):c.886C>T (p.Arg296Cys)	ZNF671 (R198C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215951	NM_024833.3(ZNF671):c.673G>C (p.Gly225Arg)	ZNF671 (G127R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312140	NM_024833.3(ZNF671):c.640C>T (p.Pro214Ser)	ZNF671 (P137S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239158	NM_024833.3(ZNF671):c.581G>A (p.Cys194Tyr)	ZNF671 (C194Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394032	NM_024833.3(ZNF671):c.580T>C (p.Cys194Arg)	ZNF671 (C194R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259127	NM_024833.3(ZNF671):c.550G>A (p.Gly184Arg)	ZNF671 (G184R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197622	NM_024833.3(ZNF671):c.542A>C (p.Lys181Thr)	ZNF671 (K83T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598401	NM_024833.3(ZNF671):c.505T>C (p.Cys169Arg)	ZNF671 (C71R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197621	NM_024833.3(ZNF671):c.451G>A (p.Val151Met)	ZNF671 (V53M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490116	NM_024833.3(ZNF671):c.412G>A (p.Glu138Lys)	ZNF671 (E61K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197620	NM_024833.3(ZNF671):c.399T>G (p.His133Gln)	ZNF671 (H35Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216214	NM_024833.3(ZNF671):c.336G>C (p.Gln112His)	ZNF671 (Q14H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399569	NM_024833.3(ZNF671):c.257C>T (p.Ala86Val)	ZNF671 (A86V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197619	NM_024833.3(ZNF671):c.227A>T (p.Asp76Val)	ZNF671 (D76V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2367116	NM_024833.3(ZNF671):c.125C>G (p.Thr42Arg)	ZNF671 (T42R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3197615	NM_024833.3(ZNF671):c.100G>C (p.Ala34Pro)	ZNF671 (A34P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2288064	NM_024833.3(ZNF671):c.94G>A (p.Val32Ile)	ZNF671 (V32I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488688	NM_024833.3(ZNF671):c.68C>T (p.Ser23Leu)	ZNF671 (S23L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3259128	NM_024833.3(ZNF671):c.62C>T (p.Pro21Leu)	ZNF671 (P21L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494336	NM_024833.3(ZNF671):c.61C>T (p.Pro21Ser)	ZNF671 (P21S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527434	NM_024833.3(ZNF671):c.52T>C (p.Cys18Arg)	ZNF671 (C18R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3197618	NM_024833.3(ZNF671):c.17C>T (p.Ser6Phe)	ZNF671 (S6F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2684896	GRCh37/hg19 19q13.43(chr19:58186264-58449066)x3	ZNF154, ZNF417 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684895	GRCh37/hg19 19q13.43(chr19:58034484-58421498)x3	ZIK1, ZNF134 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1340119	GRCh37/hg19 19q13.43(chr19:58026985-58255427)x3	ZIK1, ZNF134 +9 more	Copy number gain	not provided	GLikely benign
Select item 688389	GRCh37/hg19 19q13.43(chr19:58092045-58686148)x3	C19orf18, ZIK1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 688241	GRCh37/hg19 19q13.43(chr19:58054819-58410552)x3	ZIK1, ZNF134 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685397	GRCh37/hg19 19q13.43(chr19:57952073-58661581)x3	C19orf18, VN1R1 +29 more	Copy number gain	not provided	GUncertain significance
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 564595	GRCh37/hg19 19q13.43(chr19:57891243-58536930)x3	ZNF814, ZSCAN4 +27 more	Copy number gain	not provided	GLikely benign
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 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 441564	GRCh37/hg19 19q13.43(chr19:58026984-58246176)x1	ZIK1, ZNF134 +9 more	Copy number loss	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

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Items: 59