ZNF789[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 2332091	NM_213603.3(ZNF789):c.20G>A (p.Gly7Glu)	ZNF789 (G7E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2296082	NM_213603.3(ZNF789):c.53T>C (p.Met18Thr)	ZNF789 (M1T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2299204	NM_213603.3(ZNF789):c.65G>T (p.Arg22Ile)	ZNF789 (R22I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550923	NM_213603.3(ZNF789):c.224C>T (p.Pro75Leu)	ZNF789 (P58L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198404	NM_213603.3(ZNF789):c.359A>C (p.Glu120Ala)	ZNF394, ZNF789 (E103A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621408	NM_213603.3(ZNF789):c.388C>G (p.His130Asp)	ZNF394, ZNF789 (H113D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393803	NM_213603.3(ZNF789):c.389A>G (p.His130Arg)	ZNF394, ZNF789 (H113R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337113	NM_213603.3(ZNF789):c.437G>C (p.Ser146Thr)	ZNF394, ZNF789 (S129T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198405	NM_213603.3(ZNF789):c.456G>C (p.Arg152Ser)	ZNF394, ZNF789 (R152S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613791	NM_213603.3(ZNF789):c.538A>G (p.Lys180Glu)	ZNF394, ZNF789 (K180E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465782	NM_213603.3(ZNF789):c.662G>T (p.Arg221Ile)	ZNF394, ZNF789 (R126I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391051	NM_213603.3(ZNF789):c.670T>C (p.Phe224Leu)	ZNF394, ZNF789 (F129L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310366	NM_213603.3(ZNF789):c.703G>A (p.Gly235Arg)	ZNF394, ZNF789 (G235R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198406	NM_213603.3(ZNF789):c.781G>A (p.Asp261Asn)	ZNF394, ZNF789 (D166N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238393	NM_213603.3(ZNF789):c.808G>A (p.Ala270Thr)	ZNF394, ZNF789 (A270T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529120	NM_213603.3(ZNF789):c.824A>G (p.His275Arg)	ZNF394, ZNF789 (H180R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232895	NM_213603.3(ZNF789):c.911A>C (p.Gln304Pro)	ZNF394, ZNF789 (Q304P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485805	NM_213603.3(ZNF789):c.961G>T (p.Ala321Ser)	ZNF394, ZNF789 (A304S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360083	NM_213603.3(ZNF789):c.970C>T (p.Arg324Trp)	ZNF394, ZNF789 (R229W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198402	NM_213603.3(ZNF789):c.1012C>T (p.Pro338Ser)	ZNF394, ZNF789 (P243S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486752	NM_213603.3(ZNF789):c.1130C>T (p.Thr377Met)	ZNF394, ZNF789 (T360M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615485	NM_213603.3(ZNF789):c.1205G>A (p.Cys402Tyr)	ZNF394, ZNF789 (C364Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485606	NM_213603.3(ZNF789):c.1222T>C (p.Trp408Arg)	ZNF394, ZNF789 (W313R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286758	NM_213603.3(ZNF789):c.1238T>C (p.Ile413Thr)	ZNF394, ZNF789 (I396T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685253	GRCh37/hg19 7q22.1(chr7:99057038-99165274)x1	ATP5MF, ATP5MF-PTCD1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687317	GRCh37/hg19 7q22.1(chr7:98758955-99368262)x1	ARPC1A, ARPC1B +16 more	Copy number loss	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253793	GRCh37/hg19 7q22.1(chr7:98985840-99171421)x3	ATP5MF-PTCD1, BUD31 +10 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50