ClinVar for MedGen (Select 61565) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24467071.	NM_000049.4(ASPA):c.884T>C (p.Phe295Ser) GRCh37: Chr17:3402324 GRCh38: Chr17:3499030	ASPA, SPATA22	F295S	Spongy degeneration of central nervous system	Likely pathogenic (Apr 5, 2023)	criteria provided, single submitter
Select item 24392522.	NM_000049.4(ASPA):c.405T>A (p.Phe135Leu) GRCh37: Chr17:3385065 GRCh38: Chr17:3481771	ASPA, SPATA22	F135L	Spongy degeneration of central nervous system	Uncertain significance (Nov 21, 2021)	criteria provided, single submitter
Select item 24222063.	NC_000017.10:g.(?_3379454)_(3819519_?)del GRCh37: Chr17:3379454-3819519	ASPA, CAMKK1, CTNS, EMC6, HASPIN, ITGAE, NCBP3, P2RX1, P2RX5, SHPK, TAX1BP3, TRPV1, TRPV3		Spongy degeneration of central nervous system	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 24222054.	NC_000017.10:g.(?_3379454)_(3385112_?)dup GRCh37: Chr17:3379454-3385112	ASPA		Spongy degeneration of central nervous system	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 24222045.	NC_000017.10:g.(?_3379434)_(3402402_?)dup GRCh37: Chr17:3379434-3402402	ASPA		Spongy degeneration of central nervous system	Uncertain significance (Aug 21, 2020)	criteria provided, single submitter
Select item 24222036.	NC_000017.10:g.(?_3379454)_(3385112_?)del GRCh37: Chr17:3379454-3385112	ASPA		Spongy degeneration of central nervous system	Pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 24222017.	NC_000017.10:g.(?_3379444)_(3379699_?)del GRCh37: Chr17:3379444-3379699	ASPA		Spongy degeneration of central nervous system	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 24187198.	NM_000049.4(ASPA):c.20_205del (p.Ala7_Leu69delinsVal) GRCh37: Chr17:3379473-3379658 GRCh38: Chr17:3476179-3476364	ASPA, SPATA22		Spongy degeneration of central nervous system	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 24154659.	NM_000049.4(ASPA):c.929G>A (p.Cys310Tyr) GRCh37: Chr17:3402369 GRCh38: Chr17:3499075	ASPA, SPATA22	C310Y	Spongy degeneration of central nervous system	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 241424210.	NM_000049.4(ASPA):c.131C>G (p.Thr44Arg) GRCh37: Chr17:3379584 GRCh38: Chr17:3476290	ASPA, SPATA22	T44R	Spongy degeneration of central nervous system	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 241281211.	NM_000049.4(ASPA):c.863A>G (p.Tyr288Cys) GRCh37: Chr17:3402303 GRCh38: Chr17:3499009	ASPA, SPATA22	Y288C	Spongy degeneration of central nervous system	not provided	no assertion provided
Select item 218552212.	NM_000049.4(ASPA):c.376C>G (p.Leu126Val) GRCh37: Chr17:3385036 GRCh38: Chr17:3481742	ASPA, SPATA22	L126V	Inborn genetic diseases, Spongy degeneration of central nervous system	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218449313.	NM_000049.4(ASPA):c.470T>C (p.Ile157Thr) GRCh37: Chr17:3386830 GRCh38: Chr17:3483536	ASPA, SPATA22	I157T	Spongy degeneration of central nervous system	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 216780614.	NM_000049.4(ASPA):c.434del (p.Thr145fs) GRCh37: Chr17:3386794 GRCh38: Chr17:3483500	ASPA, SPATA22	T145fs	Spongy degeneration of central nervous system	Pathogenic (Dec 7, 2021)	criteria provided, single submitter
Select item 216464715.	NM_000049.4(ASPA):c.649C>T (p.Pro217Ser) GRCh37: Chr17:3397658 GRCh38: Chr17:3494364	ASPA, SPATA22	P217S	Spongy degeneration of central nervous system	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216445016.	NM_000049.4(ASPA):c.326A>G (p.Tyr109Cys) GRCh37: Chr17:3384986 GRCh38: Chr17:3481692	ASPA, SPATA22	Y109C	Spongy degeneration of central nervous system	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 216408917.	NM_000049.4(ASPA):c.499A>G (p.Thr167Ala) GRCh37: Chr17:3386859 GRCh38: Chr17:3483565	ASPA, SPATA22	T167A	Spongy degeneration of central nervous system	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 215973818.	NM_000049.4(ASPA):c.635-3T>C GRCh37: Chr17:3397641 GRCh38: Chr17:3494347	ASPA, SPATA22		Spongy degeneration of central nervous system	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 215738019.	NM_000049.4(ASPA):c.895A>G (p.Thr299Ala) GRCh37: Chr17:3402335 GRCh38: Chr17:3499041	ASPA, SPATA22	T299A	Spongy degeneration of central nervous system	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 215621920.	NM_000049.4(ASPA):c.460G>A (p.Val154Ile) GRCh37: Chr17:3386820 GRCh38: Chr17:3483526	ASPA, SPATA22	V154I	Spongy degeneration of central nervous system	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 215559321.	NM_000049.4(ASPA):c.309A>G (p.Lys103=) GRCh37: Chr17:3384969 GRCh38: Chr17:3481675	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 215111222.	NM_000049.4(ASPA):c.565G>T (p.Ala189Ser) GRCh37: Chr17:3392567 GRCh38: Chr17:3489273	ASPA, SPATA22	A189S	Spongy degeneration of central nervous system	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 215055623.	NM_000049.4(ASPA):c.899A>G (p.Lys300Arg) GRCh37: Chr17:3402339 GRCh38: Chr17:3499045	ASPA, SPATA22	K300R	Spongy degeneration of central nervous system	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 214941824.	NM_000049.4(ASPA):c.924T>A (p.Ile308=) GRCh37: Chr17:3402364 GRCh38: Chr17:3499070	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 214716925.	NM_000049.4(ASPA):c.290A>G (p.Asn97Ser) GRCh37: Chr17:3384950 GRCh38: Chr17:3481656	ASPA, SPATA22	N97S	Spongy degeneration of central nervous system	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 214176826.	NM_000049.4(ASPA):c.773G>C (p.Gly258Ala) GRCh37: Chr17:3402213 GRCh38: Chr17:3498919	ASPA, SPATA22	G258A	Spongy degeneration of central nervous system	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 213787627.	NM_000049.4(ASPA):c.902T>C (p.Leu301Pro) GRCh37: Chr17:3402342 GRCh38: Chr17:3499048	ASPA, SPATA22	L301P	not specified, Spongy degeneration of central nervous system	Uncertain significance (Jul 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213787528.	NM_000049.4(ASPA):c.610G>C (p.Asp204His) GRCh37: Chr17:3392612 GRCh38: Chr17:3489318	ASPA, SPATA22	D204H	Spongy degeneration of central nervous system	Pathogenic (Dec 22, 2021)	criteria provided, single submitter
Select item 213787429.	NM_000049.4(ASPA):c.557T>A (p.Val186Asp) GRCh37: Chr17:3392559 GRCh38: Chr17:3489265	ASPA, SPATA22	V186D	Spongy degeneration of central nervous system	Pathogenic (May 23, 2022)	criteria provided, single submitter
Select item 212920730.	NM_000049.4(ASPA):c.691T>C (p.Tyr231His) GRCh37: Chr17:3397700 GRCh38: Chr17:3494406	ASPA, SPATA22	Y231H	Spongy degeneration of central nervous system	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 212622531.	NM_000049.4(ASPA):c.732T>C (p.His244=) GRCh37: Chr17:3397741 GRCh38: Chr17:3494447	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 211919332.	NM_000049.4(ASPA):c.25G>T (p.Glu9Ter) GRCh37: Chr17:3379478 GRCh38: Chr17:3476184	ASPA, SPATA22	E9*	Spongy degeneration of central nervous system	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 211553333.	NM_000049.4(ASPA):c.635-10T>C GRCh37: Chr17:3397634 GRCh38: Chr17:3494340	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 210764234.	NM_000049.4(ASPA):c.527-1G>A GRCh37: Chr17:3392528 GRCh38: Chr17:3489234	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 210720735.	NM_000049.4(ASPA):c.102G>A (p.Trp34Ter) GRCh37: Chr17:3379555 GRCh38: Chr17:3476261	ASPA, SPATA22	W34*	Spongy degeneration of central nervous system	Pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 208936436.	NM_000049.4(ASPA):c.325_328dup (p.Asp110delinsValTer) GRCh37: Chr17:3384984-3384985 GRCh38: Chr17:3481690-3481691	ASPA, SPATA22		Spongy degeneration of central nervous system	Pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 208893837.	NM_000049.4(ASPA):c.771T>C (p.Pro257=) GRCh37: Chr17:3402211 GRCh38: Chr17:3498917	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 206841938.	NM_000049.4(ASPA):c.635-13G>C GRCh37: Chr17:3397631 GRCh38: Chr17:3494337	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 206775539.	NM_000049.4(ASPA):c.38A>G (p.Lys13Arg) GRCh37: Chr17:3379491 GRCh38: Chr17:3476197	ASPA, SPATA22	K13R	Spongy degeneration of central nervous system	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 205535140.	NM_000049.4(ASPA):c.59C>T (p.Thr20Ile) GRCh37: Chr17:3379512 GRCh38: Chr17:3476218	ASPA, SPATA22	T20I	Spongy degeneration of central nervous system	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 204832641.	NM_000049.4(ASPA):c.928T>G (p.Cys310Gly) GRCh37: Chr17:3402368 GRCh38: Chr17:3499074	ASPA, SPATA22	C310G	Spongy degeneration of central nervous system	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 204719342.	NM_000049.4(ASPA):c.744+6A>T GRCh37: Chr17:3397759 GRCh38: Chr17:3494465	ASPA, SPATA22		Spongy degeneration of central nervous system	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 204625243.	NM_000049.4(ASPA):c.843G>A (p.Val281=) GRCh37: Chr17:3402283 GRCh38: Chr17:3498989	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 204198444.	NM_000049.4(ASPA):c.659T>C (p.Ile220Thr) GRCh37: Chr17:3397668 GRCh38: Chr17:3494374	ASPA, SPATA22	I220T	Spongy degeneration of central nervous system	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 203995845.	NM_000049.4(ASPA):c.433-19C>T GRCh37: Chr17:3386774 GRCh38: Chr17:3483480	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 203405446.	NM_000049.4(ASPA):c.645T>C (p.Phe215=) GRCh37: Chr17:3397654 GRCh38: Chr17:3494360	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 203337447.	NM_000049.4(ASPA):c.577del (p.Asp193fs) GRCh37: Chr17:3392578 GRCh38: Chr17:3489284	ASPA, SPATA22	D193fs	Spongy degeneration of central nervous system	Pathogenic (Sep 29, 2022)	criteria provided, single submitter
Select item 203331248.	NM_000049.4(ASPA):c.138G>A (p.Leu46=) GRCh37: Chr17:3379591 GRCh38: Chr17:3476297	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 202551949.	NM_000049.4(ASPA):c.347_348insAA (p.His116fs) GRCh37: Chr17:3385006-3385007 GRCh38: Chr17:3481712-3481713	ASPA, SPATA22	H116fs	Spongy degeneration of central nervous system	Pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 201692950.	NM_000049.4(ASPA):c.526+1G>C GRCh37: Chr17:3386887 GRCh38: Chr17:3483593	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 201574951.	NM_000049.4(ASPA):c.444T>C (p.Ala148=) GRCh37: Chr17:3386804 GRCh38: Chr17:3483510	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 200093252.	NM_000049.4(ASPA):c.291del (p.His98fs) GRCh37: Chr17:3384951 GRCh38: Chr17:3481657	ASPA, SPATA22	H98fs	Spongy degeneration of central nervous system	Pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 199812253.	NM_000049.4(ASPA):c.80del (p.Gly27fs) GRCh37: Chr17:3379532 GRCh38: Chr17:3476238	ASPA, SPATA22	G27fs	Spongy degeneration of central nervous system	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 198907854.	NM_000049.4(ASPA):c.350A>C (p.Asn117Thr) GRCh37: Chr17:3385010 GRCh38: Chr17:3481716	ASPA, SPATA22	N117T	Spongy degeneration of central nervous system	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 198650855.	NM_000049.4(ASPA):c.487A>C (p.Lys163Gln) GRCh37: Chr17:3386847 GRCh38: Chr17:3483553	ASPA, SPATA22	K163Q	Inborn genetic diseases, Spongy degeneration of central nervous system	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 198160456.	NM_000049.4(ASPA):c.594G>A (p.Met198Ile) GRCh37: Chr17:3392596 GRCh38: Chr17:3489302	ASPA, SPATA22	M198I	Spongy degeneration of central nervous system	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 196575357.	NM_000049.4(ASPA):c.283G>T (p.Glu95Ter) GRCh37: Chr17:3384943 GRCh38: Chr17:3481649	ASPA, SPATA22	E95*	Spongy degeneration of central nervous system	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 195133658.	NM_000049.4(ASPA):c.40G>A (p.Val14Ile) GRCh37: Chr17:3379493 GRCh38: Chr17:3476199	ASPA, SPATA22	V14I	Spongy degeneration of central nervous system	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 193514159.	NM_000049.4(ASPA):c.879A>G (p.Glu293=) GRCh37: Chr17:3402319 GRCh38: Chr17:3499025	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 193282160.	NM_000049.4(ASPA):c.634+3A>G GRCh37: Chr17:3392639 GRCh38: Chr17:3489345	ASPA, SPATA22		Spongy degeneration of central nervous system	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 192867661.	NM_000049.4(ASPA):c.455G>C (p.Cys152Ser) GRCh37: Chr17:3386815 GRCh38: Chr17:3483521	ASPA, SPATA22	C152S	Spongy degeneration of central nervous system	Likely pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 192719762.	NM_000049.4(ASPA):c.634+18del GRCh37: Chr17:3392654 GRCh38: Chr17:3489360	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 192680763.	NM_000049.4(ASPA):c.133G>C (p.Gly45Arg) GRCh37: Chr17:3379586 GRCh38: Chr17:3476292	ASPA, SPATA22	G45R	Spongy degeneration of central nervous system	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 190598564.	NM_000049.4(ASPA):c.744+15T>C GRCh37: Chr17:3397768 GRCh38: Chr17:3494474	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 176669465.	NM_000049.4(ASPA):c.936A>T (p.Leu312Phe) GRCh37: Chr17:3402376 GRCh38: Chr17:3499082	ASPA, SPATA22	L312F	Inborn genetic diseases, Spongy degeneration of central nervous system	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 176576166.	NM_000049.4(ASPA):c.909C>T (p.Leu303=) GRCh37: Chr17:3402349 GRCh38: Chr17:3499055	ASPA, SPATA22		Inborn genetic diseases, Spongy degeneration of central nervous system	Likely benign (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174992767.	NM_000049.4(ASPA):c.582A>G (p.Gln194=) GRCh37: Chr17:3392584 GRCh38: Chr17:3489290	ASPA, SPATA22		Inborn genetic diseases, Spongy degeneration of central nervous system	Likely benign (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174456968.	NM_000049.4(ASPA):c.498C>T (p.Thr166=) GRCh37: Chr17:3386858 GRCh38: Chr17:3483564	ASPA, SPATA22		Inborn genetic diseases, Spongy degeneration of central nervous system	Likely benign (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172439369.	NM_000049.4(ASPA):c.406_407del (p.Leu136fs) GRCh37: Chr17:3385063-3385064 GRCh38: Chr17:3481769-3481770	ASPA, SPATA22	L136fs	Spongy degeneration of central nervous system	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 172419770.	NM_000049.4(ASPA):c.456_459del (p.Cys152fs) GRCh37: Chr17:3386816-3386819 GRCh38: Chr17:3483522-3483525	ASPA, SPATA22	C152fs	Spongy degeneration of central nervous system	Likely pathogenic (Nov 7, 2021)	criteria provided, single submitter
Select item 170540971.	NM_000049.4(ASPA):c.548C>T (p.Pro183Leu) GRCh37: Chr17:3392550 GRCh38: Chr17:3489256	ASPA, SPATA22	P183L	Spongy degeneration of central nervous system	Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166957472.	NM_000049.4(ASPA):c.236+9A>G GRCh37: Chr17:3379698 GRCh38: Chr17:3476404	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 166178473.	NM_000049.4(ASPA):c.433-9T>A GRCh37: Chr17:3386784 GRCh38: Chr17:3483490	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Dec 15, 2020)	criteria provided, single submitter
Select item 165232974.	NM_000049.4(ASPA):c.606T>G (p.Ala202=) GRCh37: Chr17:3392608 GRCh38: Chr17:3489314	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Nov 16, 2020)	criteria provided, single submitter
Select item 164742775.	NM_000049.4(ASPA):c.831C>G (p.Thr277=) GRCh37: Chr17:3402271 GRCh38: Chr17:3498977	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 164650776.	NM_000049.4(ASPA):c.88C>T (p.Leu30=) GRCh37: Chr17:3379541 GRCh38: Chr17:3476247	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Oct 30, 2020)	criteria provided, single submitter
Select item 164528477.	NM_000049.4(ASPA):c.432+8T>C GRCh37: Chr17:3385100 GRCh38: Chr17:3481806	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Mar 23, 2021)	criteria provided, single submitter
Select item 164428878.	NM_000049.4(ASPA):c.492T>C (p.Tyr164=) GRCh37: Chr17:3386852 GRCh38: Chr17:3483558	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Apr 9, 2021)	criteria provided, single submitter
Select item 163555579.	NM_000049.4(ASPA):c.15C>T (p.His5=) GRCh37: Chr17:3379468 GRCh38: Chr17:3476174	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Aug 12, 2021)	criteria provided, single submitter
Select item 163367680.	NM_000049.4(ASPA):c.567T>A (p.Ala189=) GRCh37: Chr17:3392569 GRCh38: Chr17:3489275	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Feb 15, 2021)	criteria provided, single submitter
Select item 163040481.	NM_000049.4(ASPA):c.111T>C (p.Asn37=) GRCh37: Chr17:3379564 GRCh38: Chr17:3476270	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Jun 9, 2021)	criteria provided, single submitter
Select item 162392782.	NM_000049.4(ASPA):c.573C>T (p.Ile191=) GRCh37: Chr17:3392575 GRCh38: Chr17:3489281	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 161820783.	NM_000049.4(ASPA):c.48C>A (p.Ile16=) GRCh37: Chr17:3379501 GRCh38: Chr17:3476207	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Nov 20, 2021)	criteria provided, single submitter
Select item 161659884.	NM_000049.4(ASPA):c.396G>A (p.Arg132=) GRCh37: Chr17:3385056 GRCh38: Chr17:3481762	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 160418185.	NM_000049.4(ASPA):c.540T>C (p.Gly180=) GRCh37: Chr17:3392542 GRCh38: Chr17:3489248	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 159758386.	NM_000049.4(ASPA):c.171A>G (p.Ala57=) GRCh37: Chr17:3379624 GRCh38: Chr17:3476330	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Sep 29, 2021)	criteria provided, single submitter
Select item 158696887.	NM_000049.4(ASPA):c.861A>G (p.Ala287=) GRCh37: Chr17:3402301 GRCh38: Chr17:3499007	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Feb 11, 2021)	criteria provided, single submitter
Select item 157225988.	NM_000049.4(ASPA):c.30T>C (p.His10=) GRCh37: Chr17:3379483 GRCh38: Chr17:3476189	ASPA, SPATA22		Inborn genetic diseases, Spongy degeneration of central nervous system	Likely benign (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156965889.	NM_000049.4(ASPA):c.528T>G (p.Gly176=) GRCh37: Chr17:3392530 GRCh38: Chr17:3489236	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 156913890.	NM_000049.4(ASPA):c.519T>C (p.Tyr173=) GRCh37: Chr17:3386879 GRCh38: Chr17:3483585	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (May 31, 2021)	criteria provided, single submitter
Select item 156359191.	NM_000049.4(ASPA):c.372C>T (p.Cys124=) GRCh37: Chr17:3385032 GRCh38: Chr17:3481738	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Sep 8, 2021)	criteria provided, single submitter
Select item 156127492.	NM_000049.4(ASPA):c.10T>C (p.Cys4Arg) GRCh37: Chr17:3379463 GRCh38: Chr17:3476169	ASPA, SPATA22	C4R	Spongy degeneration of central nervous system	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 155810293.	NM_000049.4(ASPA):c.819C>A (p.Gly273=) GRCh37: Chr17:3402259 GRCh38: Chr17:3498965	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (May 11, 2021)	criteria provided, single submitter
Select item 155701094.	NM_000049.4(ASPA):c.634+8A>G GRCh37: Chr17:3392644 GRCh38: Chr17:3489350	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Jul 6, 2021)	criteria provided, single submitter
Select item 155086395.	NM_000049.4(ASPA):c.369G>T (p.Gly123=) GRCh37: Chr17:3385029 GRCh38: Chr17:3481735	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 154169196.	NM_000049.4(ASPA):c.342C>T (p.Asp114=) GRCh37: Chr17:3385002 GRCh38: Chr17:3481708	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 153090497.	NM_000049.4(ASPA):c.291T>C (p.Asn97=) GRCh37: Chr17:3384951 GRCh38: Chr17:3481657	ASPA, SPATA22		Spongy degeneration of central nervous system	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 152149998.	NM_000049.4(ASPA):c.160A>C (p.Asn54His) GRCh37: Chr17:3379613 GRCh38: Chr17:3476319	ASPA, SPATA22	N54H	Spongy degeneration of central nervous system	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 152037699.	NM_000049.4(ASPA):c.563G>A (p.Arg188Lys) GRCh37: Chr17:3392565 GRCh38: Chr17:3489271	ASPA, SPATA22	R188K	Spongy degeneration of central nervous system	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 1510418100.	NM_000049.4(ASPA):c.113G>A (p.Gly38Asp) GRCh37: Chr17:3379566 GRCh38: Chr17:3476272	SPATA22, ASPA	G38D	Spongy degeneration of central nervous system	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter

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