8427[Gene ID] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +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	PRKAG2, PRKAG2-AS1 +1052 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 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 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 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 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 57185	GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1	ACTR3C, ATP6V0E2 +142 more	Copy number loss	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 2406277	NM_003575.4(ZNF282):c.155C>G (p.Pro52Arg)	ZNF282 (P52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508029	NM_003575.4(ZNF282):c.187G>A (p.Ala63Thr)	ZNF282 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491527	NM_003575.4(ZNF282):c.257T>G (p.Met86Arg)	ZNF282 (M86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301477	NM_003575.4(ZNF282):c.269A>G (p.Gln90Arg)	ZNF282 (Q90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194908	NM_003575.4(ZNF282):c.416C>T (p.Thr139Met)	ZNF282 (T139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225940	NM_003575.4(ZNF282):c.457G>A (p.Val153Met)	ZNF282 (V153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194909	NM_003575.4(ZNF282):c.715G>A (p.Ala239Thr)	ZNF282 (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395418	NM_003575.4(ZNF282):c.722G>A (p.Gly241Asp)	ZNF282 (G241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335369	NM_003575.4(ZNF282):c.799G>A (p.Glu267Lys)	ZNF282 (E267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523039	NM_003575.4(ZNF282):c.845T>G (p.Leu282Arg)	ZNF282 (L282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555216	NM_003575.4(ZNF282):c.848T>G (p.Val283Gly)	ZNF282 (V283G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215385	NM_003575.4(ZNF282):c.893T>A (p.Leu298Gln)	ZNF282 (L298Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194911	NM_003575.4(ZNF282):c.911G>A (p.Arg304Gln)	ZNF282 (R304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335371	NM_003575.4(ZNF282):c.938C>T (p.Thr313Met)	ZNF282 (T313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194912	NM_003575.4(ZNF282):c.961A>T (p.Ile321Phe)	ZNF282 (I321F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205009	NM_003575.4(ZNF282):c.961A>G (p.Ile321Val)	ZNF282 (I321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556436	NM_003575.4(ZNF282):c.1002G>C (p.Glu334Asp)	ZNF282 (E334D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205138	NM_003575.4(ZNF282):c.1027G>A (p.Asp343Asn)	ZNF282 (D343N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527474	NM_003575.4(ZNF282):c.1046T>G (p.Ile349Ser)	ZNF282 (I349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194902	NM_003575.4(ZNF282):c.1072C>G (p.Leu358Val)	ZNF282 (L358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194903	NM_003575.4(ZNF282):c.1253A>C (p.Gln418Pro)	ZNF282 (Q418P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373602	NM_003575.4(ZNF282):c.1268C>T (p.Ser423Leu)	ZNF282 (S423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474645	NM_003575.4(ZNF282):c.1315C>A (p.Pro439Thr)	ZNF282 (P439T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462446	NM_003575.4(ZNF282):c.1324C>T (p.Pro442Ser)	ZNF282 (P442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335370	NM_003575.4(ZNF282):c.1361T>C (p.Val454Ala)	ZNF282 (V454A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2601556	NM_003575.4(ZNF282):c.1397C>T (p.Pro466Leu)	ZNF282 (P466L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2482482	NM_003575.4(ZNF282):c.1414A>T (p.Thr472Ser)	ZNF282 (T472S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194904	NM_003575.4(ZNF282):c.1433A>G (p.Asp478Gly)	ZNF282 (D478G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194905	NM_003575.4(ZNF282):c.1441G>T (p.Gly481Cys)	ZNF282 (G481C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287897	NM_003575.4(ZNF282):c.1447G>A (p.Gly483Ser)	ZNF282 (G483S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194906	NM_003575.4(ZNF282):c.1457C>T (p.Ala486Val)	ZNF282 (A486V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194907	NM_003575.4(ZNF282):c.1483G>A (p.Gly495Ser)	ZNF282 (G495S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329531	NM_003575.4(ZNF282):c.1534G>A (p.Gly512Ser)	ZNF282 (G512S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510444	NM_003575.4(ZNF282):c.1537G>A (p.Ala513Thr)	ZNF282 (A513T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518490	NM_003575.4(ZNF282):c.1556C>T (p.Ser519Leu)	ZNF282 (S519L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345296	NM_003575.4(ZNF282):c.1603A>G (p.Ile535Val)	ZNF282 (I535V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685273	GRCh37/hg19 7q35-36.1(chr7:144075624-149323060)x1	C7orf33, CNTNAP2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +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 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	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 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 972930	GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3	ATP6V0E2, C7orf33 +20 more	Copy number loss	not provided	Gnot provided
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 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	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 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 684492	Single allele	ATP6V0E2, C7orf33 +20 more	Duplication	not provided	Gnot provided
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
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 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 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 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442236	GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4	ABCB8, ACTR3C +46 more	Copy number gain	See cases	GUncertain significance
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic

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