ClinVar for MedGen (Select 274) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24452311.	NM_001080421.3(UNC13A):c.182C>T (p.Thr61Met) GRCh37: Chr19:17783275 GRCh38: Chr19:17672466	UNC13A	T61M	Amyotrophic lateral sclerosis	association (Mar 22, 2023)	no assertion criteria provided
Select item 18102812.	NM_019112.4(ABCA7):c.302T>G (p.Leu101Arg) GRCh37: Chr19:1041971 GRCh38: Chr19:1041972	ABCA7	L101R	Amyotrophic lateral sclerosis	Uncertain significance (Nov 10, 2022)	criteria provided, single submitter
Select item 16999903.	NM_020919.4(ALS2):c.142C>G (p.Leu48Val) GRCh37: Chr2:202631985 GRCh38: Chr2:201767262	ALS2	L48V	Amyotrophic lateral sclerosis	Likely pathogenic (Jul 1, 2022)	no assertion criteria provided
Select item 16768464.	NM_021076.4(NEFH):c.1083+254= GRCh37: Chr22:29879817-29879852 GRCh38: Chr22:29483828-29483863	NEFH		Amyotrophic lateral sclerosis	Uncertain significance	no assertion criteria provided
Select item 13923965.	NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val) GRCh37: Chr5:179260046 GRCh38: Chr5:179833046	SQSTM1	I173V, I257V	Inborn genetic diseases, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13761296.	NM_021076.4(NEFH):c.1321G>A (p.Glu441Lys) GRCh37: Chr22:29884950 GRCh38: Chr22:29488961	NEFH	E441K	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 13433357.	NM_145868.2(ANXA11):c.1481G>A (p.Arg494Gln) GRCh37: Chr10:81915646 GRCh38: Chr10:80155890	ANXA11	R461Q, R494Q	Amyotrophic lateral sclerosis, not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13433348.	NM_145868.2(ANXA11):c.488AGC[2] (p.Gln165del) GRCh37: Chr10:81928790-81928792 GRCh38: Chr10:80169034-80169036	ANXA11	Q132del, Q165del	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 13433339.	NM_145868.2(ANXA11):c.744+3G>A GRCh37: Chr10:81926643 GRCh38: Chr10:80166887	ANXA11		Amyotrophic lateral sclerosis, not provided	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134333210.	NM_000454.5(SOD1):c.450T>G (p.Ile150Met) GRCh37: Chr21:33040876 GRCh38: Chr21:31668563	SOD1	I150M	Amyotrophic lateral sclerosis	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 134333111.	NC_000009.12:g.27573529_27573534GGCCCC[24_30] GRCh38: Chr9:27573529-27573534	C9orf72, LOC109504728, LOC129929032		Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134333012.	NC_000009.12:g.27573529_27573534GGCCCC[60_?] GRCh38: Chr9:27573529-27573534	C9orf72, LOC109504728, LOC129929032		Amyotrophic lateral sclerosis	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 134332913.	NM_006000.3(TUBA4A):c.1214T>G (p.Val405Gly) GRCh37: Chr2:220115207 GRCh38: Chr2:219250485	TUBA4A	V390G, V405G	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134332814.	NM_015046.7(SETX):c.7235T>C (p.Ile2412Thr) GRCh37: Chr9:135145054 GRCh38: Chr9:132269667	LOC126860782, SETX	I2412T	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134332715.	NM_015046.7(SETX):c.7199+8A>G GRCh37: Chr9:135147089 GRCh38: Chr9:132271702	SETX		Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134332616.	NM_015046.7(SETX):c.3265G>A (p.Val1089Met) GRCh37: Chr9:135203720 GRCh38: Chr9:132328333	SETX	V1089M	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134332517.	NM_015046.7(SETX):c.1934T>A (p.Phe645Tyr) GRCh37: Chr9:135205051 GRCh38: Chr9:132329664	SETX	F645Y	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134332418.	NM_015046.7(SETX):c.1398T>G (p.Ile466Met) GRCh37: Chr9:135205587 GRCh38: Chr9:132330200	SETX	I466M	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134332319.	NM_005022.4(PFN1):c.86C>T (p.Pro29Leu) GRCh37: Chr17:4851604 GRCh38: Chr17:4948309	PFN1	P29L	Amyotrophic lateral sclerosis, not provided	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134332220.	NM_001008212.2(OPTN):c.447G>T (p.Arg149Ser) GRCh37: Chr10:13154530 GRCh38: Chr10:13112530	OPTN	R149S	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134332121.	NM_018834.6(MATR3):c.2321C>T (p.Thr774Ile) GRCh37: Chr5:138661301 GRCh38: Chr5:139325612	MATR3	T436I, T486I, T774I	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134332022.	NM_018834.6(MATR3):c.626A>G (p.Gln209Arg) GRCh37: Chr5:138643730 GRCh38: Chr5:139308041	MATR3	Q209R	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134331923.	NM_018446.4(GLT8D1):c.1108A>G (p.Ile370Val) GRCh37: Chr3:52728869 GRCh38: Chr3:52694853	GLT8D1	I370V	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134331824.	NM_001003722.2(GLE1):c.1465G>A (p.Glu489Lys) GRCh37: Chr9:131296049 GRCh38: Chr9:128533770	GLE1, LOC101929270	E489K	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134331725.	NM_014845.6(FIG4):c.421C>T (p.Arg141Trp) GRCh37: Chr6:110048443 GRCh38: Chr6:109727240	FIG4	R141W	Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis, Inborn genetic diseases	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134331626.	NM_005235.3(ERBB4):c.3337A>G (p.Lys1113Glu) GRCh37: Chr2:212251722 GRCh38: Chr2:211386997	ERBB4	K1097E, K1113E	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134331527.	NM_001917.5(DAO):c.34G>A (p.Gly12Arg) GRCh37: Chr12:109278816 GRCh38: Chr12:108885040	DAO	G12R	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134331428.	NM_001761.3(CCNF):c.1918G>A (p.Val640Met) GRCh37: Chr16:2506578 GRCh38: Chr16:2456577	CCNF, LOC105371050	V332M, V640M	Amyotrophic lateral sclerosis	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 134331329.	NM_001761.3(CCNF):c.419G>A (p.Arg140Gln) GRCh37: Chr16:2487202 GRCh38: Chr16:2437201	CCNF	R140Q	Amyotrophic lateral sclerosis, Inborn genetic diseases	Uncertain significance (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119251030.	NM_001376.5(DYNC1H1):c.4106A>G (p.Gln1369Arg) GRCh37: Chr14:102467322 GRCh38: Chr14:102000985	DYNC1H1	Q1369R	Amyotrophic lateral sclerosis	Uncertain significance (Aug 7, 2021)	no assertion criteria provided
Select item 106654531.	NM_020919.4(ALS2):c.3624+1G>A GRCh37: Chr2:202588052 GRCh38: Chr2:201723329	ALS2		Infantile-onset ascending hereditary spastic paralysis	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 99893332.	NM_014845.6(FIG4):c.422G>A (p.Arg141Gln) GRCh37: Chr6:110048444 GRCh38: Chr6:109727241	FIG4	R141Q	Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99783233.	NM_006415.4(SPTLC1):c.118_123del (p.Phe40_Ser41del) GRCh37: Chr9:94874779-94874784 GRCh38: Chr9:92112497-92112502	SPTLC1		Amyotrophic lateral sclerosis	Likely pathogenic	criteria provided, single submitter
Select item 98103234.	NM_001080421.3(UNC13A):c.4197+7C>T GRCh37: Chr19:17735631 GRCh38: Chr19:17624822	UNC13A		Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98103135.	NM_198935.3(SS18L1):c.961G>A (p.Ala321Thr) GRCh37: Chr20:60747782 GRCh38: Chr20:62172726	SS18L1	A190T, A321T	Amyotrophic lateral sclerosis, not provided	Conflicting interpretations of pathogenicity (May 4, 2021)	criteria provided, conflicting interpretations
Select item 98103036.	NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) GRCh37: Chr9:135203938 GRCh38: Chr9:132328551	SETX	I1016T	Inborn genetic diseases, Amyotrophic lateral sclerosis, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98102937.	NM_006058.5(TNIP1):c.437C>T (p.Ala146Val) GRCh37: Chr5:150436517 GRCh38: Chr5:151056956	TNIP1	A146V, A93V	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98102838.	NM_015046.7(SETX):c.2425A>G (p.Ile809Val) GRCh37: Chr9:135204560 GRCh38: Chr9:132329173	SETX	I809V	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98102739.	NM_016106.4(SCFD1):c.1297A>G (p.Thr433Ala) GRCh37: Chr14:31164033 GRCh38: Chr14:30694827	SCFD1	T248A, T341A, T366A, T374A, T433A	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98102640.	NM_015077.4(SARM1):c.1501T>C (p.Tyr501His) GRCh37: Chr17:26712165 GRCh38: Chr17:28385146	SARM1	Y501H	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98102541.	NM_001199397.3(NEK1):c.107A>G (p.Asn36Ser) GRCh37: Chr4:170523675 GRCh38: Chr4:169602524	NEK1	N36S	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98102442.	NM_021076.4(NEFH):c.2009T>A (p.Val670Glu) GRCh37: Chr22:29885638 GRCh38: Chr22:29489649	NEFH	V670E	Inborn genetic diseases, Amyotrophic lateral sclerosis, not provided	Conflicting interpretations of pathogenicity (Jan 31, 2022)	criteria provided, conflicting interpretations
Select item 98102343.	NM_001393704.1(MOBP):c.514C>A (p.Arg172Ser) GRCh37: Chr3:39544333 GRCh38: Chr3:39502842	MOBP	R172S, R196S	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98102244.	NM_005243.4(EWSR1):c.1393G>A (p.Gly465Ser) GRCh37: Chr22:29693915 GRCh38: Chr22:29297925	EWSR1	G409S, G464S, G465S, G470S	not provided, Amyotrophic lateral sclerosis	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 98102145.	NM_005243.4(EWSR1):c.1783G>A (p.Asp595Asn) GRCh37: Chr22:29695693 GRCh38: Chr22:29299703	EWSR1	D539N, D594N, D595N, D600N	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98102046.	NM_005235.3(ERBB4):c.3176T>C (p.Met1059Thr) GRCh37: Chr2:212252677 GRCh38: Chr2:211387952	ERBB4	M1059T	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98101947.	NM_003315.4(DNAJC7):c.170T>C (p.Met57Thr) GRCh37: Chr17:40149254 GRCh38: Chr17:41997236	DNAJC7	M1T, M57T	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98101848.	NM_007204.5(DDX20):c.2237T>C (p.Leu746Ser) GRCh37: Chr1:112309283 GRCh38: Chr1:111766661	DDX20	L746S	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98101749.	NM_004928.3(CFAP410):c.642+22G>A GRCh37: Chr21:45750684 GRCh38: Chr21:44330801	CFAP410	A221T	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 98101650.	NM_001372574.1(ATXN2):c.2470A>C (p.Ile824Leu) GRCh37: Chr12:111923123 GRCh38: Chr12:111485319	ATXN2	I695L, I719L, I824L	Amyotrophic lateral sclerosis	Uncertain significance (Sep 9, 2020)	criteria provided, single submitter
Select item 97665651.	NM_001917.5(DAO):c.250G>A (p.Ala84Thr) GRCh37: Chr12:109281281 GRCh38: Chr12:108887505	DAO	A84T	DAO-related condition, Amyotrophic lateral sclerosis	Conflicting interpretations of pathogenicity (Dec 13, 2022)	criteria provided, conflicting interpretations
Select item 97665552.	NM_004082.5(DCTN1):c.1864A>T (p.Ile622Phe) GRCh37: Chr2:74595249 GRCh38: Chr2:74368122	DCTN1	I488F, I585F, I599F, I602F, I605F, I615F, I622F	Amyotrophic lateral sclerosis	Likely pathogenic (Jul 31, 2020)	criteria provided, single submitter
Select item 97665453.	NM_005235.3(ERBB4):c.3814G>A (p.Gly1272Arg) GRCh37: Chr2:212248453 GRCh38: Chr2:211383728	ERBB4	G1256R, G1272R	Amyotrophic lateral sclerosis	Likely pathogenic (Jul 31, 2020)	criteria provided, single submitter
Select item 97665354.	NM_016106.4(SCFD1):c.209T>C (p.Ile70Thr) GRCh37: Chr14:31099759 GRCh38: Chr14:30630553	SCFD1	I3T, I70T	Amyotrophic lateral sclerosis	Uncertain significance (Jul 31, 2020)	criteria provided, single submitter
Select item 97665255.	NM_001372574.1(ATXN2):c.18GCA[28] (p.Gln14_Gln28dup) GRCh37: Chr12:112036782-112036783 GRCh38: Chr12:111598978-111598979	ATXN2, LOC130008791		Amyotrophic lateral sclerosis	risk factor (Jul 31, 2020)	criteria provided, single submitter
Select item 97665056.	NM_144599.5(NIPA1):c.24GGC[21] (p.Ala4_Ala16dup) GRCh37: Chr15:23086364-23086365 GRCh38: Chr15:22786677-22786678	LOC130056709, NIPA1		Amyotrophic lateral sclerosis	risk factor (Jul 31, 2020)	criteria provided, single submitter
Select item 96942957.	NM_025137.4(SPG11):c.789A>G (p.Lys263=) GRCh37: Chr15:44949373 GRCh38: Chr15:44657175	SPG11		Charcot-Marie-Tooth disease axonal type 2X, Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 5, Hereditary spastic paraplegia 11	Conflicting interpretations of pathogenicity (Jul 18, 2022)	criteria provided, conflicting interpretations
Select item 96100458.	NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter) GRCh37: Chr2:202606527 GRCh38: Chr2:201741804	ALS2	R741*	Infantile-onset ascending hereditary spastic paralysis	Pathogenic (Aug 25, 2019)	criteria provided, single submitter
Select item 89643659.	NM_000454.4(SOD1):c.-87G>A GRCh37: Chr21:33031996 GRCh38: Chr21:31659683	SOD1, SOD1-DT		Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 1	Uncertain significance (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88568960.	NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys) GRCh37: Chr15:44925820 GRCh38: Chr15:44633622	SPG11	R540C	Amyotrophic lateral sclerosis, Inborn genetic diseases, Amyotrophic lateral sclerosis type 5, Charcot-Marie-Tooth disease axonal type 2X, Hereditary spastic paraplegia 11	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87331161.	NM_000743.5(CHRNA3):c.1A>G (p.Met1Val) GRCh37: Chr15:78913136 GRCh38: Chr15:78620794	CHRNA3	M1V	Amyotrophic lateral sclerosis	Likely pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 87331062.	NM_000743.5(CHRNA3):c.247_248insG (p.Thr83fs) GRCh37: Chr15:78910978-78910979 GRCh38: Chr15:78618636-78618637	CHRNA3	T83fs	Amyotrophic lateral sclerosis	Likely pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 87330963.	NM_000743.5(CHRNA3):c.708_709insG (p.Ile237fs) GRCh37: Chr15:78894275-78894276 GRCh38: Chr15:78601933-78601934	CHRNA3	I237fs	Amyotrophic lateral sclerosis	Likely pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 87330864.	NM_000743.5(CHRNA3):c.725del (p.Leu242fs) GRCh37: Chr15:78894259 GRCh38: Chr15:78601917	CHRNA3	L242fs	Amyotrophic lateral sclerosis	Likely pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 87330765.	NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg) GRCh37: Chr15:78894232 GRCh38: Chr15:78601890	CHRNA3	P251R	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87330666.	NM_006262.4(PRPH):c.190C>T (p.Arg64Ter) GRCh37: Chr12:49689173 GRCh38: Chr12:49295390	PRPH, TROAP-AS1	R64*	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87330567.	NM_000446.7(PON1):c.707A>G (p.Tyr236Cys) GRCh37: Chr7:94935670 GRCh38: Chr7:95306358	PON1	Y236C	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87330368.	NM_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg) GRCh37: Chr19:7620584 GRCh38: Chr19:7555698	PNPLA6	G1010R, G972R, G1020R, G945R	Amyotrophic lateral sclerosis, Hereditary spastic paraplegia 39	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87330269.	NM_001166114.2(PNPLA6):c.649G>T (p.Gly217Cys) GRCh37: Chr19:7605129 GRCh38: Chr19:7540243	PNPLA6	G178C, G217C, G226C	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87330170.	NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln) GRCh37: Chr6:110086229 GRCh38: Chr6:109765026	FIG4	R483Q	not provided, Amyotrophic lateral sclerosis	Conflicting interpretations of pathogenicity (Jun 19, 2020)	criteria provided, conflicting interpretations
Select item 87330071.	NM_018091.6(ELP3):c.1385G>A (p.Arg462His) GRCh37: Chr8:28017873 GRCh38: Chr8:28160356	ELP3	R343H, R370H, R448H, R390H, R462H	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87328672.	NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys) GRCh37: Chr2:74605312 GRCh38: Chr2:74378185	DCTN1	R15C, R32C	Amyotrophic lateral sclerosis type 1, Perry syndrome, Neuronopathy, distal hereditary motor, type 7B, Amyotrophic lateral sclerosis	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 87328573.	NM_004082.5(DCTN1):c.2237T>C (p.Leu746Pro) GRCh37: Chr2:74594495 GRCh38: Chr2:74367368	DCTN1	L709P, L726P, L739P, L612P, L746P, L723P, L729P	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87328474.	NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) GRCh37: Chr2:74594488 GRCh38: Chr2:74367361	DCTN1	D711E, D728E, D614E, D741E, D748E, D725E, D731E	Perry syndrome, Neuronopathy, distal hereditary motor, type 7B, Amyotrophic lateral sclerosis type 1, not provided, Amyotrophic lateral sclerosis	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87328275.	NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys) GRCh37: Chr2:74593112 GRCh38: Chr2:74365985	DCTN1	R798C, R912C, R895C, R925C, R932C, R915C, R909C	Perry syndrome, Neuronopathy, distal hereditary motor, type 7B, Amyotrophic lateral sclerosis type 1, DCTN1-related condition, Amyotrophic lateral sclerosis	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 87328176.	NM_001917.5(DAO):c.962G>A (p.Gly321Glu) GRCh37: Chr12:109294229 GRCh38: Chr12:108900453	DAO	G321E	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87327977.	NM_001917.5(DAO):c.212C>T (p.Thr71Ile) GRCh37: Chr12:109281243 GRCh38: Chr12:108887467	DAO	T71I	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87327878.	NM_001917.5(DAO):c.46G>A (p.Ala16Thr) GRCh37: Chr12:109278828 GRCh38: Chr12:108885052	DAO	A16T	DAO-related condition, Amyotrophic lateral sclerosis	Conflicting interpretations of pathogenicity (Feb 7, 2023)	criteria provided, conflicting interpretations
Select item 87327779.	NM_005022.4(PFN1):c.37G>A (p.Ala13Thr) GRCh37: Chr17:4851653 GRCh38: Chr17:4948358	PFN1	A13T	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87327680.	NM_001199397.3(NEK1):c.1900G>T (p.Glu634Ter) GRCh37: Chr4:170428877 GRCh38: Chr4:169507726	NEK1	E562, E634, E564, E590, E606, E537, E589*	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87327581.	NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) GRCh37: Chr9:135163699 GRCh38: Chr9:132288312	SETX	R2083I	Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, Amyotrophic lateral sclerosis type 4, not provided, Amyotrophic lateral sclerosis	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87327482.	NM_001097577.3(ANG):c.324dup (p.Gly109fs) GRCh37: Chr14:21162046-21162047 GRCh38: Chr14:20693887-20693888	ANG, EGILA, RNASE4	G109fs	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87327383.	NM_005235.3(ERBB4):c.308G>A (p.Arg103His) GRCh37: Chr2:212812268 GRCh38: Chr2:211947543	ERBB4	R103H	not provided, ERBB4-related condition, Amyotrophic lateral sclerosis	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 87323884.	NM_005235.3(ERBB4):c.655G>A (p.Gly219Ser) GRCh37: Chr2:212589887 GRCh38: Chr2:211725162	ERBB4	G219S	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87323785.	NM_005235.3(ERBB4):c.158A>G (p.Tyr53Cys) GRCh37: Chr2:212989553 GRCh38: Chr2:212124828	ERBB4	Y53C	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87323686.	NM_005235.3(ERBB4):c.2518G>A (p.Val840Ile) GRCh37: Chr2:212295795 GRCh38: Chr2:211431070	ERBB4	V840I	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87321087.	NM_000750.5(CHRNB4):c.116G>T (p.Arg39Leu) GRCh37: Chr15:78927869 GRCh38: Chr15:78635527	CHRNB4	R39L	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 87320988.	NM_000750.5(CHRNB4):c.498C>G (p.Asn166Lys) GRCh37: Chr15:78922149 GRCh38: Chr15:78629807	CHRNB4	N166K	Amyotrophic lateral sclerosis	Benign (Mar 31, 2020)	criteria provided, single submitter
Select item 87320889.	NM_000750.5(CHRNB4):c.1304C>T (p.Ala435Val) GRCh37: Chr15:78921343 GRCh38: Chr15:78629001	CHRNB4	A435V	Amyotrophic lateral sclerosis	Benign (Mar 31, 2020)	criteria provided, single submitter
Select item 87320790.	NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr) GRCh37: Chr20:61982107 GRCh38: Chr20:63350755	CHRNA4	N219T, N43T	Amyotrophic lateral sclerosis	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 86475791.	NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter) GRCh37: Chr9:94812271 GRCh38: Chr9:92049989	SPTLC1	R132, R287, R165*	not provided, Amyotrophic lateral sclerosis, Hereditary sensory and autonomic neuropathy type 1	Uncertain significance (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85286492.	NM_001008212.2(OPTN):c.1533-3C>T GRCh37: Chr10:13175499 GRCh38: Chr10:13133499	OPTN		Amyotrophic lateral sclerosis type 12, Glaucoma 1, open angle, E, Primary open angle glaucoma, not provided, Amyotrophic lateral sclerosis, Inborn genetic diseases	Uncertain significance (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83547493.	NM_000744.7(CHRNA4):c.979G>A (p.Val327Met) GRCh37: Chr20:61981784 GRCh38: Chr20:63350432	CHRNA4	V151M, V327M	Autosomal dominant nocturnal frontal lobe epilepsy, Amyotrophic lateral sclerosis	Conflicting interpretations of pathogenicity (Dec 23, 2021)	criteria provided, conflicting interpretations
Select item 80770794.	NM_013254.4(TBK1):c.992+1G>A GRCh37: Chr12:64875802 GRCh38: Chr12:64482022	TBK1		Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8, Amyotrophic lateral sclerosis, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Pathogenic (Oct 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80750895.	NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) GRCh37: Chr12:64891001-64891003 GRCh38: Chr12:64497221-64497223	TBK1	E643del	TBK1-related condition, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, not provided, Amyotrophic lateral sclerosis	Pathogenic/Likely pathogenic (May 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 77069696.	NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) GRCh37: Chr2:212576777 GRCh38: Chr2:211712052	ERBB4	H374Q	Amyotrophic lateral sclerosis, not provided, Amyotrophic lateral sclerosis type 19	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 71761297.	NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe) GRCh37: Chr2:31414830 GRCh38: Chr2:31191964	CAPN14	L417F, L241F	not provided, Amyotrophic lateral sclerosis	Conflicting interpretations of pathogenicity (Sep 9, 2020)	criteria provided, conflicting interpretations
Select item 69502498.	NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) GRCh37: Chr21:33039648 GRCh38: Chr21:31667335	SOD1	S106L	Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 1	Pathogenic (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64394699.	NM_013254.4(TBK1):c.701+1G>A GRCh37: Chr12:64868171 GRCh38: Chr12:64474391	TBK1		Amyotrophic lateral sclerosis, TBK1-related condition, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Pathogenic/Likely pathogenic (Dec 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 639243100.	NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg) GRCh37: Chr5:179251221 GRCh38: Chr5:179824221	SQSTM1	G191R, G107R	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset, Amyotrophic lateral sclerosis	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts

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