Related gene-specific medical variations for Gene (Select 9217) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297397	NM_004738.5(VAPB):c.-150_-149dup	LOC130066253, VAPB	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1195499	NM_004738.5(VAPB):c.-149del	VAPB, LOC130066253	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 898907	NM_004738.5(VAPB):c.-166G>A	LOC130066253, VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 895952	NM_004738.5(VAPB):c.-137C>T	LOC130066253, VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 895951	NM_004738.5(VAPB):c.-150C>G	LOC130066253, VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 338926	NM_004738.5(VAPB):c.-152C>A	LOC130066253, VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338925	NM_004738.5(VAPB):c.-149dup	LOC130066253, VAPB	Duplication (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 338924	NM_004738.5(VAPB):c.-159_-158insCC	LOC130066253, VAPB	Insertion (5 prime UTR variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 338923	NM_004738.5(VAPB):c.-159_-158insC	LOC130066253, VAPB	Insertion (non-coding transcript variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 338922	NM_004738.5(VAPB):c.-189C>T	VAPB, LOC130066253	Single nucleotide variant (5 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338921	NM_004738.5(VAPB):c.-198GCCCTC[3]	LOC130066253, VAPB	Microsatellite (5 prime UTR variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance