CN239211[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366487	NM_018325.5(C9orf72):c.*1262A>C	C9orf72	Single nucleotide variant (3 prime UTR variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366493	NM_018325.5(C9orf72):c.794_797del	C9orf72	Deletion (3 prime UTR variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366500	NM_018325.5(C9orf72):c.*309dup	C9orf72	Duplication (3 prime UTR variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GLikely benign
Select item 366510	NM_018325.5(C9orf72):c.1260-12dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366509	NM_018325.5(C9orf72):c.1260-12_1260-11insT	C9orf72	Insertion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366513	NM_018325.5(C9orf72):c.1260-16_1260-13dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366512	NM_018325.5(C9orf72):c.1260-13_1260-12insTT	C9orf72	Insertion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366511	NM_018325.5(C9orf72):c.1260-13_1260-12insT	C9orf72	Insertion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366519	NM_018325.5(C9orf72):c.1260-18_1260-14dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366518	NM_018325.5(C9orf72):c.1260-17_1260-14dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366517	NM_018325.5(C9orf72):c.1260-16_1260-14dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366516	NM_018325.5(C9orf72):c.1260-14dup	C9orf72	Duplication (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366515	NM_018325.5(C9orf72):c.1260-15_1260-13del	C9orf72	Deletion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366514	NM_018325.5(C9orf72):c.1260-14_1260-13del	C9orf72	Deletion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366521	NM_018325.5(C9orf72):c.1260-16_1260-14del	C9orf72	Deletion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GBenign
Select item 366520	NM_018325.5(C9orf72):c.1260-14del	C9orf72	Deletion (intron variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366525	NM_018325.5(C9orf72):c.792G>T (p.Arg264Ser)	C9orf72 (R264S)	Single nucleotide variant (missense variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance
Select item 366534	NM_145005.7(C9orf72):c.-91dup	C9orf72	Duplication (5 prime UTR variant)	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	GUncertain significance