"GeneDx"[submitter] AND "ASPA"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 188888	NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	ASPA, SPATA22 (G27R)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +2 more	GPathogenic/Likely pathogenic
Select item 2616	NM_000049.4(ASPA):c.212G>A (p.Arg71His)	ASPA, SPATA22 (R71H)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +2 more	GPathogenic/Likely pathogenic
Select item 1267222	NM_000049.4(ASPA):c.236+126T>C	SPATA22, ASPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242527	NM_000049.4(ASPA):c.236+153T>C	SPATA22, ASPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 370554	NM_000049.4(ASPA):c.244dup (p.Met82fs)	SPATA22, ASPA (M82fs)	Duplication (frameshift variant +1 more)	not provided +3 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 372307	NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)	ASPA, SPATA22 (I143F)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 1243739	NM_000049.4(ASPA):c.432+157A>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283508	NM_000049.4(ASPA):c.432+287A>T	ASPA, SPATA22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226234	NM_000049.4(ASPA):c.433-235T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253130	NM_000049.4(ASPA):c.526+129G>A	ASPA, SPATA22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283985	NM_000049.4(ASPA):c.527-322A>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275890	NM_000049.4(ASPA):c.634+229_634+232dup	ASPA, SPATA22	Duplication (intron variant)	not provided	GBenign
Select item 1239539	NM_000049.4(ASPA):c.634+302A>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260830	NM_000049.4(ASPA):c.635-297del	ASPA, SPATA22	Deletion (intron variant)	not provided	GBenign
Select item 523964	NM_000049.4(ASPA):c.689_698del (p.Asp230fs)	ASPA, SPATA22 (D230fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 197621	NM_000049.4(ASPA):c.693C>T (p.Tyr231=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
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 2429145	NM_000049.4(ASPA):c.731A>T (p.His244Leu)	ASPA, SPATA22 (H244L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1265994	NM_000049.4(ASPA):c.744+142C>T	ASPA, SPATA22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274941	NM_000049.4(ASPA):c.744+216G>A	ASPA, SPATA22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430157	NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)	ASPA, SPATA22 (P257R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188788	NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	ASPA, SPATA22 (G274R)	Single nucleotide variant (missense variant +1 more)	Canavan Disease, Familial Form +2 more	GPathogenic/Likely 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 3343501	NM_000049.4(ASPA):c.914C>T (p.Ala305Val)	ASPA, SPATA22 (A305V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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
Select item 1766694	NM_000049.4(ASPA):c.936A>T (p.Leu312Phe)	ASPA, SPATA22 (L312F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 253683	GRCh37/hg19 17p13.2(chr17:3392623-3663528)x3	ASPA, CTNS +8 more	Copy number gain	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic

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Items: 30