C0206307[trait identifier] AND "Counsyl"[submitter] - ClinVar

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

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370934	NM_000049.4(ASPA):c.2T>C (p.Met1Thr)	ASPA, SPATA22 (M1T)	Single nucleotide variant (missense variant +2 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 189049	NM_000049.4(ASPA):c.32del (p.Ile11fs)	SPATA22, ASPA (I11fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 550560	NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)	ASPA, SPATA22 (I16T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
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 556181	NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)	ASPA, SPATA22 (L30P)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GConflicting classifications of pathogenicity
Select item 556428	NM_000049.4(ASPA):c.170C>T (p.Ala57Val)	ASPA, SPATA22 (A57V)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 555993	NM_000049.4(ASPA):c.188G>C (p.Arg63Thr)	ASPA, SPATA22 (R63T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
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 550670	NM_000049.4(ASPA):c.236+1G>A	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 553166	NM_000049.4(ASPA):c.237-1G>A	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 371463	NM_000049.4(ASPA):c.237-1G>T	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 370554	NM_000049.4(ASPA):c.244dup (p.Met82fs)	ASPA, SPATA22 (M82fs)	Duplication (frameshift variant +1 more)	Canavan Disease, Familial Form +3 more	GPathogenic/Likely pathogenic
Select item 189005	NM_000049.4(ASPA):c.244_245del (p.Met82fs)	ASPA, SPATA22 (M82fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 371046	NM_000049.4(ASPA):c.245del (p.Met82fs)	ASPA, SPATA22 (M82fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
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 551932	NM_000049.4(ASPA):c.382del (p.Glu129fs)	ASPA, SPATA22 (E129fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 550346	NM_000049.4(ASPA):c.427A>G (p.Ile143Val)	ASPA, SPATA22 (I143V)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GConflicting classifications of pathogenicity
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 557614	NM_000049.4(ASPA):c.428T>C (p.Ile143Thr)	ASPA, SPATA22 (I143T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 554976	NM_000049.4(ASPA):c.432G>A (p.Lys144=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system +1 more	GConflicting classifications of pathogenicity
Select item 322633	NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)	ASPA, SPATA22 (I170T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GConflicting classifications of pathogenicity
Select item 550593	NM_000049.4(ASPA):c.514_515dup (p.Tyr173fs)	ASPA, SPATA22 (Y173fs)	Duplication (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely 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 554476	NM_000049.4(ASPA):c.539G>T (p.Gly180Val)	ASPA, SPATA22 (G180V)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GConflicting classifications of pathogenicity
Select item 188940	NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	SPATA22, ASPA (P181T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +2 more	GPathogenic/Likely pathogenic
Select item 554478	NM_000049.4(ASPA):c.542C>T (p.Pro181Leu)	ASPA, SPATA22 (P181L)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GConflicting classifications of pathogenicity
Select item 554010	NM_000049.4(ASPA):c.548C>A (p.Pro183His)	ASPA, SPATA22 (P183H)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 551798	NM_000049.4(ASPA):c.613_621del (p.Phe205_His207del)	ASPA, SPATA22	Deletion (inframe_deletion +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 555049	NM_000049.4(ASPA):c.626del (p.Phe209fs)	ASPA, SPATA22 (F209fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 370344	NM_000049.4(ASPA):c.640G>T (p.Glu214Ter)	SPATA22, ASPA (E214*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 370450	NM_000049.4(ASPA):c.650_651del (p.Pro217fs)	ASPA, SPATA22 (P217fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 552391	NM_000049.4(ASPA):c.679_682del (p.Glu227fs)	ASPA, SPATA22 (E227fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 370207	NM_000049.4(ASPA):c.697del (p.Arg233fs)	SPATA22, ASPA (R233fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 371086	NM_000049.4(ASPA):c.731A>G (p.His244Arg)	ASPA, SPATA22 (H244R)	Single nucleotide variant (missense variant +1 more)	Canavan Disease, Familial Form +1 more	GLikely pathogenic
Select item 371178	NM_000049.4(ASPA):c.745-2A>G	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 552704	NM_000049.4(ASPA):c.745-1G>A	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2615	NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	ASPA, SPATA22 (D249V)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
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 556864	NM_000049.4(ASPA):c.796dup (p.Asp266fs)	ASPA, SPATA22 (D266fs)	Duplication (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 188788	NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	ASPA, SPATA22 (G274R)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +2 more	GPathogenic/Likely pathogenic
Select item 371202	NM_000049.4(ASPA):c.827_828del (p.Cys276fs)	ASPA, SPATA22 (C276fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 556989	NM_000049.4(ASPA):c.831del (p.Val278fs)	ASPA, SPATA22 (V278fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 554736	NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)	ASPA, SPATA22 (P280S)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GConflicting classifications of pathogenicity
Select item 550525	NM_000049.4(ASPA):c.839C>T (p.Pro280Leu)	ASPA, SPATA22 (P280L)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 188803	NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	ASPA, SPATA22 (A287T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 370795	NM_000049.4(ASPA):c.867C>A (p.Tyr289Ter)	ASPA, SPATA22 (Y289*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 371665	NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	ASPA, SPATA22 (E293fs)	Microsatellite (frameshift variant +1 more)	Canavan Disease, Familial Form +1 more	GPathogenic/Likely pathogenic
Select item 550783	NM_000049.4(ASPA):c.875AAG[1] (p.Glu293del)	ASPA, SPATA22 (E293del)	Microsatellite (inframe_deletion +1 more)	Spongy degeneration of central nervous system	GUncertain significance
Select item 370201	NM_000049.4(ASPA):c.922del (p.Ile308fs)	ASPA, SPATA22 (I308fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 371424	NM_000049.4(ASPA):c.924del (p.Arg309fs)	ASPA, SPATA22 (R309fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 553902	NM_000049.4(ASPA):c.935T>G (p.Leu312Ter)	ASPA, SPATA22 (L312*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51