ClinVar for Gene (Select 285989) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
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 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 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 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 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 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 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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
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 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	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

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Links from Gene

Items: 50