ClinVar for MedGen (Select 61565) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	ASPA, SPATA22	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	ASPA, SPATA22	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	SPATA22, ASPA	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)	SPATA22, ASPA (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=)	ASPA, SPATA22	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)	SPATA22, ASPA (M1I)	Single nucleotide variant (missense variant +2 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
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=)	SPATA22, ASPA	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=)	SPATA22, ASPA	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)	Spongy degeneration of central nervous system +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 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
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 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 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 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 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 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 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 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 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 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 2446707	NM_000049.4(ASPA):c.884T>C (p.Phe295Ser)	ASPA, SPATA22 (F295S)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2439252	NM_000049.4(ASPA):c.405T>A (p.Phe135Leu)	ASPA, SPATA22 (F135L)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GUncertain significance
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 2422206	NC_000017.10:g.(?_3379454)_(3819519_?)del	ASPA, CAMKK1 +11 more	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 2422205	NC_000017.10:g.(?_3379454)_(3385112_?)dup	ASPA	Duplication	Spongy degeneration of central nervous system	GUncertain significance
Select item 2422204	NC_000017.10:g.(?_3379434)_(3402402_?)dup	ASPA	Duplication	Spongy degeneration of central nervous system	GUncertain significance

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