ZNF680[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +113 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	ABHD11, ABHD11-AS1 +350 more	Copy number loss	See cases	GPathogenic
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +349 more	Copy number gain	See cases	GPathogenic
Select item 3197686	NM_178558.5(ZNF680):c.1387A>G (p.Lys463Glu)	ZNF680 (K463E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600494	NM_178558.5(ZNF680):c.1349C>A (p.Thr450Asn)	ZNF680 (T450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197685	NM_178558.5(ZNF680):c.1303A>C (p.Lys435Gln)	ZNF680 (K435Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549111	NM_178558.5(ZNF680):c.1270C>T (p.His424Tyr)	ZNF680 (H424Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197684	NM_178558.5(ZNF680):c.1101A>T (p.Arg367Ser)	ZNF680 (R367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279103	NM_178558.5(ZNF680):c.1088C>A (p.Ala363Glu)	ZNF680 (A363E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306655	NM_178558.5(ZNF680):c.1058A>T (p.Glu353Val)	ZNF680 (E353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197691	NM_178558.5(ZNF680):c.889G>A (p.Asp297Asn)	ZNF680 (D297N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540077	NM_178558.5(ZNF680):c.877C>G (p.Pro293Ala)	ZNF680 (P293A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462585	NM_178558.5(ZNF680):c.833T>C (p.Phe278Ser)	ZNF680 (F278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380135	NM_178558.5(ZNF680):c.821C>G (p.Ala274Gly)	ZNF680 (A274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197690	NM_178558.5(ZNF680):c.621G>T (p.Glu207Asp)	ZNF680 (E207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309176	NM_178558.5(ZNF680):c.587A>G (p.His196Arg)	ZNF680 (H196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310772	NM_178558.5(ZNF680):c.586C>T (p.His196Tyr)	ZNF680 (H196Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197689	NM_178558.5(ZNF680):c.524G>T (p.Arg175Ile)	ZNF680 (R175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197688	NM_178558.5(ZNF680):c.388G>A (p.Asp130Asn)	ZNF680 (D130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213466	NM_178558.5(ZNF680):c.325C>G (p.Leu109Val)	ZNF680 (L109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256318	NM_178558.5(ZNF680):c.324A>G (p.Ile108Met)	ZNF680 (I108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197687	NM_178558.5(ZNF680):c.275A>G (p.Glu92Gly)	ZNF680 (E92G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294922	NM_178558.5(ZNF680):c.233A>C (p.Glu78Ala)	ZNF680 (E78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312669	NM_178558.5(ZNF680):c.91G>A (p.Asp31Asn)	ZNF680 (D31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324720	NM_178558.5(ZNF680):c.62A>T (p.Glu21Val)	ZNF680 (E21V)	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 983155	GRCh37/hg19 7q11.21(chr7:62495083-64927758)x1	ERV3-1, ZNF107 +9 more	Copy number loss	See cases	GUncertain significance
Select item 980823	GRCh37/hg19 7q11.21(chr7:62508852-64940346)x1	ERV3-1, ZNF107 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687667	GRCh37/hg19 7q11.21(chr7:63903253-64426719)x4	ZNF107, ZNF138 +2 more	Copy number gain	not provided	GUncertain significance
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 443521	GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1	ASL, AUTS2 +20 more	Copy number loss	See cases	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 441610	GRCh37/hg19 7q11.21(chr7:62659911-64160628)x3	ZNF107, ZNF679 +4 more	Copy number gain	See cases	GUncertain significance
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 40