FMC1-LUC7L2[gene] - ClinVar

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Items: 61

	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 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 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 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	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 59694	GRCh38/hg38 7q34(chr7:138795539-140364913)x3	ATP6V0A4, CLEC2L +86 more	Copy number gain	See cases	GUncertain significance
Select item 2503066	NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)	FMC1, FMC1-LUC7L2 +1 more (Y35C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 3292305	NM_016019.5(LUC7L2):c.80G>A (p.Arg27Gln)	FMC1-LUC7L2, LUC7L2 (R93Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560143	NM_016019.5(LUC7L2):c.367-443_763del	FMC1-LUC7L2, LUC7L2	Deletion (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2281780	NM_016019.5(LUC7L2):c.373C>T (p.Arg125Cys)	FMC1-LUC7L2, LUC7L2 (R122C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121543	NM_016019.5(LUC7L2):c.488G>A (p.Arg163Gln)	FMC1-LUC7L2, LUC7L2 (R160Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540014	NM_016019.5(LUC7L2):c.737G>A (p.Arg246Gln)	FMC1-LUC7L2, LUC7L2 (R246Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121544	NM_016019.5(LUC7L2):c.889C>T (p.Arg297Trp)	FMC1-LUC7L2, LOC100129148 +1 more (R297W +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3121545	NM_016019.5(LUC7L2):c.908A>G (p.His303Arg)	FMC1-LUC7L2, LOC100129148 +1 more (H302R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2513162	NM_016019.5(LUC7L2):c.928C>T (p.Arg310Cys)	FMC1-LUC7L2, LOC100129148 +1 more (R309C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3292306	NM_016019.5(LUC7L2):c.940C>T (p.Arg314Cys)	LOC100129148, LUC7L2 +1 more (R313C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2509244	NM_016019.5(LUC7L2):c.959G>A (p.Arg320Gln)	FMC1-LUC7L2, LOC100129148 +1 more (R317Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3121542	NM_016019.5(LUC7L2):c.1033T>A (p.Leu345Ile)	FMC1-LUC7L2, LOC100129148 +1 more (L344I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321384	NM_016019.5(LUC7L2):c.1105C>T (p.Arg369Trp)	LOC100129148, LUC7L2 +1 more (R368W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301420	NM_016019.5(LUC7L2):c.1160G>A (p.Arg387His)	FMC1-LUC7L2, LOC100129148 +1 more (R384H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	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 2684505	GRCh37/hg19 7q34(chr7:139097622-139444863)x3	CLEC2L, FMC1-LUC7L2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	ADCK2, AGK +34 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 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ZC3HAV1, ZC3HAV1L +37 more	Duplication	not provided	GUncertain significance
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	BPGM, SLC35B4 +105 more	Copy number loss	Abnormal facial shape +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 815042	GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	TRIM24, PARP12 +20 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 685702	GRCh37/hg19 7q33-34(chr7:137675423-139084024)x1	AKR1D1, ATP6V0A4 +12 more	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 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
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 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 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: 61