"Baylor Genetics"[submitter] AND "SPATA22"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813437	NM_000049.4(ASPA):c.3G>T (p.Met1Ile)	ASPA, SPATA22 (M1I)	Single nucleotide variant (missense variant +2 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2678898	NM_000049.4(ASPA):c.34_46del (p.Gln12fs)	ASPA, SPATA22 (Q12fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2678923	NM_000049.4(ASPA):c.40del (p.Val14fs)	ASPA, SPATA22 (V14fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely 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 2614	NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)	ASPA, SPATA22 (E24G)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely 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 1402186	NM_000049.4(ASPA):c.101G>A (p.Trp34Ter)	ASPA, SPATA22 (W34*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 661638	NM_000049.4(ASPA):c.147dup (p.Pro50fs)	ASPA, SPATA22 (P50fs)	Duplication (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 839442	NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)	ASPA, SPATA22 (N54K)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 2736389	NM_000049.4(ASPA):c.169G>A (p.Ala57Thr)	ASPA, SPATA22 (A57T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 3240542	NM_000049.4(ASPA):c.192del (p.Arg63_Tyr64insTer)	ASPA, SPATA22	Deletion (nonsense +1 more)	Spongy degeneration of central nervous system	GLikely 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 3240537	NM_000049.4(ASPA):c.236+1G>T	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
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 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 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 1965753	NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)	ASPA, SPATA22 (E95*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 1377669	NM_000049.4(ASPA):c.321_322del (p.Ser108fs)	SPATA22, ASPA (S108fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 1732890	NM_000049.4(ASPA):c.358_361del (p.Ser120fs)	ASPA, SPATA22 (S120fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic
Select item 2678901	NM_000049.4(ASPA):c.362del (p.Asn121fs)	ASPA, SPATA22 (N121fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely 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 2678808	NM_000049.4(ASPA):c.376_377del (p.Leu126fs)	ASPA, SPATA22 (L126fs)	Microsatellite (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely 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 3240528	NM_000049.4(ASPA):c.407del (p.Phe135_Leu136insTer)	ASPA, SPATA22	Deletion (nonsense +1 more)	Spongy degeneration of central nervous system	GLikely 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 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 2606	NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	ASPA, SPATA22 (C152R)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 3240536	NM_000049.4(ASPA):c.465T>G (p.Tyr155Ter)	ASPA, SPATA22 (Y155*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2678913	NM_000049.4(ASPA):c.472G>T (p.Glu158Ter)	ASPA, SPATA22 (E158*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GLikely 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 2678891	NM_000049.4(ASPA):c.527-2A>G	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 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 662022	NM_000049.4(ASPA):c.550C>T (p.Gln184Ter)	SPATA22, ASPA (Q184*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 813439	NM_000049.4(ASPA):c.609del (p.Asp204fs)	ASPA, SPATA22 (D204fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 2137875	NM_000049.4(ASPA):c.610G>C (p.Asp204His)	SPATA22, ASPA (D204H)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 2678887	NM_000049.4(ASPA):c.634+1G>A	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
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 2678866	NM_000049.4(ASPA):c.635-2A>G	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2678927	NM_000049.4(ASPA):c.635-1G>C	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2608	NM_000049.4(ASPA):c.654C>A (p.Cys218Ter)	ASPA, SPATA22 (C218*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic
Select item 2503918	NM_000049.4(ASPA):c.677T>C (p.Ile226Thr)	ASPA, SPATA22 (I226T)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GLikely 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 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 972712	NM_000049.4(ASPA):c.744+1G>A	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
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 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 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 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 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 2678849	NM_000049.4(ASPA):c.868G>T (p.Glu290Ter)	ASPA, SPATA22 (E290*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely 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 2678935	NM_000049.4(ASPA):c.885dup (p.Ala296fs)	ASPA, SPATA22 (A296fs)	Duplication (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 2678856	NM_000049.4(ASPA):c.892del (p.Thr298fs)	ASPA, SPATA22 (T298fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2678905	NM_000049.4(ASPA):c.896_899del (p.Thr299fs)	ASPA, SPATA22 (T299fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
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 950717	NM_000049.4(ASPA):c.941A>G (p.Ter314Trp)	ASPA, SPATA22	Single nucleotide variant (stop lost +1 more)	Canavan Disease, Familial Form +1 more	GLikely pathogenic
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic

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Items: 62