C0206307[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189114	NM_000049.4(ASPA):c.237-2A>T	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 1724393	NM_000049.4(ASPA):c.406_407del (p.Leu136fs)	ASPA, SPATA22 (L136fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 1724197	NM_000049.4(ASPA):c.456_459del (p.Cys152fs)	SPATA22, ASPA (C152fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 813438	NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)	ASPA, SPATA22 (R168C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550697	NM_000049.4(ASPA):c.503G>A (p.Arg168His)	SPATA22, ASPA (R168H)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 984306	NM_000049.4(ASPA):c.580C>T (p.Gln194Ter)	ASPA, SPATA22 (Q194*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 551174	NM_000049.4(ASPA):c.634+1G>T	SPATA22, ASPA	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system +2 more	GPathogenic/Likely pathogenic
Select item 2609	NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)	ASPA, SPATA22 (Y231*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system +3 more	GPathogenic
Select item 2605	NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	ASPA, SPATA22 (E285A)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +3 more	GPathogenic
Select item 2607	NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)	ASPA, SPATA22 (A305E)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +3 more	GPathogenic