ClinVar for Gene (Select 4850) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268227	NM_001190850.2(CNOT4):c.7C>T (p.Arg3Cys)	CNOT4 (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268226	NM_001190850.2(CNOT4):c.991A>G (p.Thr331Ala)	CNOT4 (T294A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268225	NM_001190850.2(CNOT4):c.1303T>C (p.Ser435Pro)	CNOT4 (S369P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268222	NM_001190850.2(CNOT4):c.2086C>A (p.Pro696Thr)	CNOT4 (P588T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268221	NM_001190850.2(CNOT4):c.1760C>T (p.Ala587Val)	CNOT4 (A521V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268220	NM_001190850.2(CNOT4):c.1729T>G (p.Ser577Ala)	CNOT4 (S577A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268219	NM_001190850.2(CNOT4):c.1709A>G (p.Asn570Ser)	CNOT4 (N504S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268218	NM_001190850.2(CNOT4):c.1414T>A (p.Leu472Met)	CNOT4 (L447M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268217	NM_001190850.2(CNOT4):c.1408T>C (p.Ser470Pro)	CNOT4 (S445P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268216	NM_001190850.2(CNOT4):c.1375G>A (p.Ala459Thr)	CNOT4 (A393T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146627	NM_001190850.2(CNOT4):c.968G>A (p.Arg323Gln)	CNOT4 (R257Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146626	NM_001190850.2(CNOT4):c.767C>T (p.Thr256Met)	CNOT4 (T190M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146625	NM_001190850.2(CNOT4):c.1945G>C (p.Ala649Pro)	CNOT4 (A575P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146623	NM_001190850.2(CNOT4):c.1469G>A (p.Ser490Asn)	CNOT4 (S424N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146622	NM_001190850.2(CNOT4):c.1333A>G (p.Thr445Ala)	CNOT4 (T445A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146621	NM_001190850.2(CNOT4):c.1306C>G (p.Leu436Val)	CNOT4 (L411V +4 more)	Single nucleotide variant (missense variant)	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 2542658	NM_001190850.2(CNOT4):c.956A>G (p.Asn319Ser)	CNOT4 (N282S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533279	NM_001190850.2(CNOT4):c.2005G>A (p.Ala669Thr)	CNOT4 (A669T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518682	NM_001190850.2(CNOT4):c.1874C>G (p.Ser625Cys)	CNOT4 (S600C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2371174	NM_001190850.2(CNOT4):c.1520G>C (p.Ser507Thr)	CNOT4 (S470T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276561	NM_001190850.2(CNOT4):c.1789A>G (p.Ser597Gly)	CNOT4 (S531G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274194	NM_001190850.2(CNOT4):c.2039C>T (p.Pro680Leu)	CNOT4 (P572L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236646	NM_001190850.2(CNOT4):c.1285C>G (p.Pro429Ala)	CNOT4 (P426A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235531	NM_001190850.2(CNOT4):c.2063C>A (p.Pro688Gln)	CNOT4 (P617Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +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 685375	GRCh37/hg19 7q33(chr7:135035582-135130700)x1	CNOT4	Copy number loss	not provided	GUncertain significance
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	DGKI, SVOPL +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	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 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 145837	GRCh38/hg38 7q33(chr7:135360779-135634426)x3	LOC129999425, CNOT4 +5 more	Copy number gain	See cases	GLikely benign
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 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

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Links from Gene

Items: 61