ASPA[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242936	NC_000017.10:g.(?_3397716)_(3402618_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 3242935	NC_000017.10:g.(?_3397734)_(3400388_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 3242934	NC_000017.10:g.(?_3384877)_(3386906_?)dup	ASPA	Duplication	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 3242933	NC_000017.10:g.(?_3379454)_(3397773_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 3242932	NC_000017.10:g.(?_3379454)_(3402382_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 2422205	NC_000017.10:g.(?_3379454)_(3385112_?)dup	ASPA	Duplication	Spongy degeneration of central nervous system	GUncertain significance
Select item 2422204	NC_000017.10:g.(?_3379434)_(3402402_?)dup	ASPA	Duplication	Spongy degeneration of central nervous system	GUncertain significance
Select item 2422203	NC_000017.10:g.(?_3379454)_(3385112_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 2422201	NC_000017.10:g.(?_3379444)_(3379699_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1698457	NC_000017.10:g.(?_3379295)_(3402701_?)del	ASPA	Deletion	Canavan Disease, Familial Form	GPathogenic
Select item 1677108	NC_000017.10:g.(?_3379295)_(3402701_?)dup	ASPA	Duplication	not specified	GUncertain significance
Select item 1454394	NC_000017.10:g.(?_3402175)_(3402392_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1071506	NC_000017.10:g.(?_3392519)_(3397763_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1071504	NC_000017.10:g.(?_3384887)_(3386896_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1071503	NC_000017.10:g.(?_3379444)_(3402392_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1071154	NC_000017.10:g.(?_3397634)_(3397763_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1068282	NC_000017.10:g.(?_3397634)_(3402392_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 1068281	NC_000017.10:g.(?_3392519)_(3392646_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GLikely pathogenic