C0206307[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555643	NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)	ASPA, SPATA22 (D114Y)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 381631	NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)	ASPA, SPATA22 (G123E)	Single nucleotide variant (missense variant +1 more)	Canavan Disease, Familial Form +2 more	GPathogenic/Likely pathogenic
Select item 2439252	NM_000049.4(ASPA):c.405T>A (p.Phe135Leu)	ASPA, SPATA22 (F135L)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
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 550715	NM_000049.4(ASPA):c.527-2A>C	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
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

ClinVar