ClinVar for Gene (Select 443) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366601	NM_000049.4(ASPA):c.915A>T (p.Ala305=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 3339500	NM_000049.4(ASPA):c.859G>T (p.Ala287Ser)	ASPA, SPATA22 (A287S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3336543	NM_000049.4(ASPA):c.340G>A (p.Asp114Asn)	ASPA, SPATA22 (D114N)	Single nucleotide variant (missense variant +1 more)	Canavan Disease, Familial Form	GLikely pathogenic
Select item 3336123	NM_000049.4(ASPA):c.745G>A (p.Asp249Asn)	ASPA, SPATA22 (D249N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318376	NM_000049.4(ASPA):c.856G>A (p.Ala286Thr)	ASPA, SPATA22 (A286T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318365	NM_000049.4(ASPA):c.814C>A (p.Leu272Met)	ASPA, SPATA22 (L272M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3242936	NC_000017.10:g.(?_3397716)_(3402618_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 3242935	NC_000017.10:g.(?_3397734)_(3400388_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 3242934	NC_000017.10:g.(?_3384877)_(3386906_?)dup	ASPA	Duplication	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 3242933	NC_000017.10:g.(?_3379454)_(3397773_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 3242932	NC_000017.10:g.(?_3379454)_(3402382_?)del	ASPA	Deletion	Spongy degeneration of central nervous system	GPathogenic
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 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 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 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 3130413	NM_000049.4(ASPA):c.494C>T (p.Ala165Val)	ASPA, SPATA22 (A165V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063514	GRCh37/hg19 17p13.2(chr17:3300933-3536977)x1	ASPA, OR1E1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063494	GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3	ASPA, LOC100288728 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3054801	NM_000049.4(ASPA):c.744+6A>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	ASPA-related disorder	GLikely benign
Select item 3019911	NM_000049.4(ASPA):c.439C>T (p.Leu147=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 3016994	NM_000049.4(ASPA):c.433-12G>T	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 3013463	NM_000049.4(ASPA):c.745-16G>T	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 3010758	NM_000049.4(ASPA):c.192T>C (p.Tyr64=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 3010070	NM_000049.4(ASPA):c.744+8T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 3007218	NM_000049.4(ASPA):c.63T>C (p.His21=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 3006156	NM_000049.4(ASPA):c.132A>G (p.Thr44=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2989516	NM_000049.4(ASPA):c.526+16del	SPATA22, ASPA	Deletion (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2985726	NM_000049.4(ASPA):c.330C>T (p.Asp110=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2980036	NM_000049.4(ASPA):c.432+12G>A	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2974215	NM_000049.4(ASPA):c.527-18C>T	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2968671	NM_000049.4(ASPA):c.759A>G (p.Lys253=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2956397	NM_000049.4(ASPA):c.635-14T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2914676	NM_000049.4(ASPA):c.745-14T>C	SPATA22, ASPA	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2907869	NM_000049.4(ASPA):c.860C>T (p.Ala287Val)	ASPA, SPATA22 (A287V)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2907504	NM_000049.4(ASPA):c.88C>G (p.Leu30Val)	ASPA, SPATA22 (L30V)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2907009	NM_000049.4(ASPA):c.433-8T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2904556	NM_000049.4(ASPA):c.744+17C>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2898840	NM_000049.4(ASPA):c.236+13T>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2896245	NM_000049.4(ASPA):c.527-20A>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2894065	NM_000049.4(ASPA):c.744+11T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2893161	NM_000049.4(ASPA):c.798T>C (p.Asp266=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2891968	NM_000049.4(ASPA):c.375T>C (p.Thr125=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2880292	NM_000049.4(ASPA):c.635-18del	ASPA, SPATA22	Deletion (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2877365	NM_000049.4(ASPA):c.489A>G (p.Lys163=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2861408	NM_000049.4(ASPA):c.862T>C (p.Tyr288His)	ASPA, SPATA22 (Y288H)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2860152	NM_000049.4(ASPA):c.236+17T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2856875	NM_000049.4(ASPA):c.433-18G>A	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2855129	NM_000049.4(ASPA):c.532_533dup (p.Val179fs)	ASPA, SPATA22 (V179fs)	Duplication (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2854859	NM_000049.4(ASPA):c.432+13T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2854616	NM_000049.4(ASPA):c.10delinsGG (p.Cys4fs)	ASPA, SPATA22 (C4fs)	Indel (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2853426	NM_000049.4(ASPA):c.534A>G (p.Glu178=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2853425	NM_000049.4(ASPA):c.527-12T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2852319	NM_000049.4(ASPA):c.921T>C (p.Ser307=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2851499	NM_000049.4(ASPA):c.75A>G (p.Leu25=)	SPATA22, ASPA	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2844867	NM_000049.4(ASPA):c.237-15T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2838830	NM_000049.4(ASPA):c.858C>A (p.Ala286=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2837676	NM_000049.4(ASPA):c.171A>T (p.Ala57=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2830412	NM_000049.4(ASPA):c.744+18T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2826210	NM_000049.4(ASPA):c.3G>A (p.Met1Ile)	ASPA, SPATA22 (M1I)	Single nucleotide variant (missense variant +2 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2825423	NM_000049.4(ASPA):c.745-11T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2824580	NM_000049.4(ASPA):c.882T>G (p.Ala294=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2819346	NM_000049.4(ASPA):c.168A>G (p.Arg56=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2817808	NM_000049.4(ASPA):c.236+2T>A	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2815511	NM_000049.4(ASPA):c.734del (p.Pro245fs)	ASPA, SPATA22 (P245fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2815504	NM_000049.4(ASPA):c.432+7T>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2806978	NM_000049.4(ASPA):c.787T>C (p.Leu263=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2800463	NM_000049.4(ASPA):c.557T>C (p.Val186Ala)	ASPA, SPATA22 (V186A)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2800364	NM_000049.4(ASPA):c.744+17_744+20del	ASPA, SPATA22	Microsatellite (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2798425	NM_000049.4(ASPA):c.432+10A>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2757135	NM_000049.4(ASPA):c.527-7T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2755682	NM_000049.4(ASPA):c.198C>T (p.Asp66=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2754857	NM_000049.4(ASPA):c.744+12T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2746533	NM_000049.4(ASPA):c.87T>C (p.Phe29=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2742561	NM_000049.4(ASPA):c.635-15T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2739830	NM_000049.4(ASPA):c.708T>C (p.Asn236=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2739050	NM_000049.4(ASPA):c.745-15A>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2736392	NM_000049.4(ASPA):c.432+1G>A	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	Canavan Disease, Familial Form +1 more	GLikely pathogenic
Select item 2736391	NM_000049.4(ASPA):c.264T>A (p.Tyr88Ter)	ASPA, SPATA22 (Y88*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2736390	NM_000049.4(ASPA):c.209A>G (p.Asn70Ser)	ASPA, SPATA22 (N70S)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
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 2731007	NM_000049.4(ASPA):c.745-17T>C	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2725720	NM_000049.4(ASPA):c.635-17T>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2716974	NM_000049.4(ASPA):c.527-14C>T	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2715769	NM_000049.4(ASPA):c.158del (p.Thr53fs)	ASPA, SPATA22 (T53fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2712658	NM_000049.4(ASPA):c.745-6T>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2705081	NM_000049.4(ASPA):c.507C>T (p.Ser169=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2703568	NM_000049.4(ASPA):c.540T>A (p.Gly180=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2696958	NM_000049.4(ASPA):c.433-19_433-18dup	ASPA, SPATA22	Duplication (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2696893	NM_000049.4(ASPA):c.408A>G (p.Leu136=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system	GLikely benign
Select item 2695934	NM_000049.4(ASPA):c.634+10_634+12del	ASPA, SPATA22	Microsatellite (intron variant)	Spongy degeneration of central nervous system	GLikely benign
Select item 2685594	GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1	ASPA, CLUH +16 more	Copy number loss	not provided	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
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 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 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 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

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