ClinVar for Gene (Select 84124) - ClinVar

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Links from Gene

Items: 78

	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 3195502	NM_032164.4(ZNF394):c.648G>C (p.Glu216Asp)	ZNF394 (E216D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3195501	NM_032164.4(ZNF394):c.626A>T (p.Gln209Leu)	ZNF394 (Q209L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3195500	NM_032164.4(ZNF394):c.50G>A (p.Gly17Glu)	ZNF394 (G17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195499	NM_032164.4(ZNF394):c.343A>C (p.Ile115Leu)	LOC129998878, ZNF394 (I115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195498	NM_032164.4(ZNF394):c.31G>A (p.Gly11Ser)	ZNF394 (G11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195497	NM_032164.4(ZNF394):c.272G>A (p.Arg91Gln)	LOC129998878, ZNF394 (R91Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195496	NM_032164.4(ZNF394):c.23A>G (p.Gln8Arg)	ZNF394 (Q8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195495	NM_032164.4(ZNF394):c.1667G>A (p.Arg556His)	ZNF394 (R556H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3195494	NM_032164.4(ZNF394):c.1513C>T (p.Arg505Cys)	ZNF394 (R505C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3195492	NM_032164.4(ZNF394):c.1507G>A (p.Gly503Arg)	ZNF394 (G503R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3195491	NM_032164.4(ZNF394):c.136C>T (p.Pro46Ser)	ZNF394 (P46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195490	NM_032164.4(ZNF394):c.1138C>T (p.His380Tyr)	ZNF394 (H380Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3195489	NM_032164.4(ZNF394):c.106C>T (p.Leu36Phe)	ZNF394 (L36F)	Single nucleotide variant (missense variant)	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 2615944	NM_032164.4(ZNF394):c.1097G>A (p.Ser366Asn)	ZNF394 (S366N)	Single nucleotide variant (3 prime UTR variant +2 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 2606643	NM_032164.4(ZNF394):c.415G>T (p.Val139Leu)	LOC129998878, ZNF394 (V139L)	Single nucleotide variant (missense variant)	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 2554895	NM_032164.4(ZNF394):c.1284C>G (p.His428Gln)	ZNF394 (H428Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2537749	NM_032164.4(ZNF394):c.599T>G (p.Val200Gly)	ZNF394 (V200G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2521524	NM_032164.4(ZNF394):c.809T>C (p.Val270Ala)	ZNF394 (V270A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2512840	NM_032164.4(ZNF394):c.523G>A (p.Ala175Thr)	ZNF394 (A175T)	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 2469216	NM_032164.4(ZNF394):c.982G>A (p.Val328Met)	ZNF394 (V328M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
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 2456537	NM_032164.4(ZNF394):c.778G>A (p.Glu260Lys)	ZNF394 (E260K)	Single nucleotide variant (3 prime UTR variant +2 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 2403316	NM_032164.4(ZNF394):c.940G>A (p.Gly314Arg)	ZNF394 (G314R)	Single nucleotide variant (3 prime UTR variant +2 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 2392885	NM_032164.4(ZNF394):c.554A>G (p.Gln185Arg)	ZNF394 (Q185R)	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 2354117	NM_032164.4(ZNF394):c.1679G>A (p.Arg560His)	ZNF394 (R560H)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	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 2321418	NM_032164.4(ZNF394):c.609A>T (p.Lys203Asn)	ZNF394 (K161M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313076	NM_032164.4(ZNF394):c.212G>A (p.Arg71His)	LOC129998878, ZNF394 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310940	NM_032164.4(ZNF394):c.692T>A (p.Leu231Gln)	ZNF394 (L231Q)	Single nucleotide variant (3 prime UTR variant +2 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 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 2282436	NM_032164.4(ZNF394):c.1672G>A (p.Gly558Ser)	ZNF394 (G558S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2251563	NM_032164.4(ZNF394):c.190C>G (p.Arg64Gly)	ZNF394 (R64G)	Single nucleotide variant (missense variant)	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 2221875	NM_032164.4(ZNF394):c.404C>T (p.Ala135Val)	LOC129998878, ZNF394 (A135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219460	NM_032164.4(ZNF394):c.1490A>G (p.Tyr497Cys)	ZNF394 (Y497C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2215738	NM_032164.4(ZNF394):c.224T>A (p.Val75Glu)	LOC129998878, ZNF394 (V75E)	Single nucleotide variant (missense variant)	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: 78