"Counsyl"[submitter] AND "SPATA22"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370934	NM_000049.4(ASPA):c.2T>C (p.Met1Thr)	SPATA22, ASPA (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	GLikely pathogenic
Select item 556428	NM_000049.4(ASPA):c.170C>T (p.Ala57Val)	SPATA22, ASPA (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	SPATA22, ASPA	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)	SPATA22, ASPA (M82fs)	Duplication (frameshift variant +1 more)	not provided +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)	Spongy degeneration of central nervous system +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	GPathogenic/Likely 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)	SPATA22, ASPA (I143T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GConflicting classifications of pathogenicity
Select item 554976	NM_000049.4(ASPA):c.432G>A (p.Lys144=)	SPATA22, ASPA	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)	not specified +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	GLikely pathogenic
Select item 188940	NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	ASPA, SPATA22 (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 (intron variant)	Spongy degeneration of central nervous system	GUncertain significance
Select item 555049	NM_000049.4(ASPA):c.626del (p.Phe209fs)	SPATA22, ASPA (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)	ASPA, SPATA22 (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)	ASPA, SPATA22 (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)	Canavan Disease, Familial Form +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	GPathogenic/Likely pathogenic
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)	Spongy degeneration of central nervous system +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)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 550783	NM_000049.4(ASPA):c.875AAG[1] (p.Glu293del)	ASPA, SPATA22 (E293del)	Microsatellite (intron variant)	Spongy degeneration of central nervous system	GUncertain significance
Select item 370201	NM_000049.4(ASPA):c.922del (p.Ile308fs)	SPATA22, ASPA (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

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Items: 51