CYREN[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	LOC123956263, LOC126860190 +455 more	Copy number loss	See cases	GPathogenic
Select item 2362597	NM_178563.4(AGBL3):c.2185A>G (p.Thr729Ala)	AGBL3, CYREN (T170A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397310	NM_178563.4(AGBL3):c.2192A>C (p.Asp731Ala)	AGBL3, CYREN (D232A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 788544	NM_178563.4(AGBL3):c.2343-9C>A	AGBL3, CYREN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788270	NM_178563.4(AGBL3):c.2351C>T (p.Pro784Leu)	AGBL3, CYREN (P285L +2 more)	Single nucleotide variant (missense variant +4 more)	not provided	GLikely benign
Select item 2477921	NM_178563.4(AGBL3):c.2396C>T (p.Ala799Val)	AGBL3, CYREN (A799V +2 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 3094960	NM_178563.4(AGBL3):c.2420T>A (p.Ile807Asn)	AGBL3, CYREN (I308N +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2465412	NM_178563.4(AGBL3):c.2435T>G (p.Met812Arg)	AGBL3, CYREN (Y108* +3 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2368853	NM_178563.4(AGBL3):c.2467C>T (p.Pro823Ser)	AGBL3, CYREN (P324S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2464495	NM_178563.4(AGBL3):c.2600G>C (p.Gly867Ala)	AGBL3, CYREN (G308A +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2478564	NM_178563.4(AGBL3):c.2692A>C (p.Asn898His)	AGBL3, CYREN (N339H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2353260	NM_178563.4(AGBL3):c.2701G>A (p.Glu901Lys)	AGBL3, CYREN (E901K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3178806	NM_018295.5(TMEM140):c.7G>A (p.Gly3Ser)	CYREN, TMEM140 (G3S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3178801	NM_018295.5(TMEM140):c.123C>A (p.Asp41Glu)	CYREN, TMEM140 (D41E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178802	NM_018295.5(TMEM140):c.142G>A (p.Gly48Ser)	CYREN, TMEM140 (G48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383473	NM_018295.5(TMEM140):c.170A>G (p.Glu57Gly)	CYREN, TMEM140 (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390552	NM_018295.5(TMEM140):c.265G>A (p.Gly89Arg)	CYREN, TMEM140 (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488078	NM_018295.5(TMEM140):c.268T>C (p.Ser90Pro)	CYREN, TMEM140 (S90P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178803	NM_018295.5(TMEM140):c.289G>T (p.Ala97Ser)	CYREN, TMEM140 (A97S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2364880	NM_018295.5(TMEM140):c.295C>A (p.Gln99Lys)	CYREN, TMEM140 (Q99K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482685	NM_018295.5(TMEM140):c.313C>G (p.Gln105Glu)	CYREN, TMEM140 (Q105E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406402	NM_018295.5(TMEM140):c.388G>A (p.Gly130Ser)	CYREN, TMEM140 (G130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294213	NM_018295.5(TMEM140):c.479T>C (p.Leu160Ser)	CYREN, TMEM140 (L160S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178805	NM_018295.5(TMEM140):c.521G>A (p.Arg174Lys)	CYREN, TMEM140 (R174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780721	NM_024033.4(CYREN):c.447A>G (p.Lys149=)	CYREN	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3079783	NM_024033.4(CYREN):c.358C>G (p.Pro120Ala)	CYREN (P107A +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3079781	NM_024033.4(CYREN):c.334G>C (p.Asp112His)	CYREN (D112H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
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 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 689118	GRCh37/hg19 7q33(chr7:134648448-137942208)x1	AGBL3, AKR1D1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	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 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	MIR183, PARP12 +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
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 563417	GRCh37/hg19 7q33(chr7:133230189-137972605)x1	AKR1B10, STRA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 443704	GRCh37/hg19 7q33(chr7:134379624-135927947)x3	AGBL3, CALD1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic

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Items: 60