"GeneDx"[submitter] AND "LOC126860782"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 1281883	NM_015046.7(SETX):c.7287+279G>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208819	NM_015046.7(SETX):c.7287+207C>T	LOC126860782, SETX (L2457F)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 4 +2 more	GLikely benign
Select item 1219771	NM_015046.7(SETX):c.7287+3del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 468523	NM_015046.7(SETX):c.7200-10dup	LOC126860782, SETX	Duplication (intron variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign/Likely benign
Select item 440265	NM_015046.7(SETX):c.7200-11_7200-10del	LOC126860782, SETX	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1683991	NM_015046.7(SETX):c.7200-172_7200-171del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1225051	NM_015046.7(SETX):c.7200-171G>A	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261238	NM_015046.7(SETX):c.7200-190A>G	LOC126860782, SETX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190338	NM_015046.7(SETX):c.7200-191_7200-190del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign
Select item 1209087	NM_015046.7(SETX):c.7200-198_7200-195del	LOC126860782, SETX	Deletion (intron variant)	not provided	GLikely benign