ClinVar for MedGen (Select 274) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013472	NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)	LOC126807526, MATR3 (T341A +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 2664441	NM_014845.6(FIG4):c.67-1G>T	FIG4	Single nucleotide variant (splice acceptor variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2664439	NM_014845.6(FIG4):c.1162A>G (p.Arg388Gly)	FIG4 (R388G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2664438	NM_014845.6(FIG4):c.143A>G (p.Asp48Gly)	FIG4 (D48G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2664437	NM_014845.6(FIG4):c.837T>G (p.Phe279Leu)	FIG4 (F279L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2445231	NM_001080421.3(UNC13A):c.182C>T (p.Thr61Met)	UNC13A (T61M)	Single nucleotide variant (missense variant)	UNC13A-related disorder +1 more	GBenign; association
Select item 1810281	NM_019112.4(ABCA7):c.302T>G (p.Leu101Arg)	ABCA7 (L101R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1804618	NM_001080421.3(UNC13A):c.2318G>A (p.Arg773Gln)	UNC13A (R771Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1699990	NM_020919.4(ALS2):c.142C>G (p.Leu48Val)	ALS2 (L48V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 1676846	NM_021076.4(NEFH):c.1083+254=	NEFH	Variation (intron variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1392396	NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val)	SQSTM1 (I173V +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +2 more	GUncertain significance
Select item 1376129	NM_021076.4(NEFH):c.1321G>A (p.Glu441Lys)	NEFH (E441K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1343335	NM_145868.2(ANXA11):c.1481G>A (p.Arg494Gln)	ANXA11 (R461Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1343334	NM_145868.2(ANXA11):c.488AGC[2] (p.Gln165del)	ANXA11 (Q132del +1 more)	Microsatellite (inframe_deletion)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343333	NM_145868.2(ANXA11):c.744+3G>A	ANXA11	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1343332	NM_000454.5(SOD1):c.450T>G (p.Ile150Met)	SOD1 (I150M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 1343331	NC_000009.12:g.27573529_27573534GGCCCC[24_30]	C9orf72, LOC109504728 +1 more	Microsatellite	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343330	NC_000009.12:g.27573529_27573534GGCCCC[60_?]	C9orf72, LOC109504728 +1 more	Microsatellite	Amyotrophic lateral sclerosis	GPathogenic
Select item 1343329	NM_006000.3(TUBA4A):c.1214T>G (p.Val405Gly)	TUBA4A (V390G +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343328	NM_015046.7(SETX):c.7235T>C (p.Ile2412Thr)	LOC126860782, SETX (I2412T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343327	NM_015046.7(SETX):c.7199+8A>G	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343326	NM_015046.7(SETX):c.3265G>A (p.Val1089Met)	SETX (V1089M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +2 more	GUncertain significance
Select item 1343325	NM_015046.7(SETX):c.1934T>A (p.Phe645Tyr)	SETX (F645Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343324	NM_015046.7(SETX):c.1398T>G (p.Ile466Met)	SETX (I466M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343323	NM_005022.4(PFN1):c.86C>T (p.Pro29Leu)	PFN1 (P29L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1343322	NM_001008212.2(OPTN):c.447G>T (p.Arg149Ser)	OPTN (R149S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343321	NM_018834.6(MATR3):c.2321C>T (p.Thr774Ile)	MATR3 (T436I +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343320	NM_018834.6(MATR3):c.626A>G (p.Gln209Arg)	MATR3 (Q209R)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343319	NM_018446.4(GLT8D1):c.1108A>G (p.Ile370Val)	GLT8D1 (I370V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343318	NM_001003722.2(GLE1):c.1465G>A (p.Glu489Lys)	GLE1, LOC101929270 (E489K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343317	NM_014845.6(FIG4):c.421C>T (p.Arg141Trp)	FIG4 (R141W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1343316	NM_005235.3(ERBB4):c.3337A>G (p.Lys1113Glu)	ERBB4 (K1097E +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343315	NM_001917.5(DAO):c.34G>A (p.Gly12Arg)	DAO (G12R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343314	NM_001761.3(CCNF):c.1918G>A (p.Val640Met)	CCNF, LOC105371050 (V332M +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1343313	NM_001761.3(CCNF):c.419G>A (p.Arg140Gln)	CCNF (R140Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1192510	NM_001376.5(DYNC1H1):c.4106A>G (p.Gln1369Arg)	DYNC1H1 (Q1369R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1066545	NM_020919.4(ALS2):c.3624+1G>A	ALS2	Single nucleotide variant (splice donor variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 998933	NM_014845.6(FIG4):c.422G>A (p.Arg141Gln)	FIG4 (R141Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 997832	NM_006415.4(SPTLC1):c.118_123del (p.Phe40_Ser41del)	SPTLC1	Deletion (inframe_deletion +1 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 981032	NM_001080421.3(UNC13A):c.4197+7C>T	UNC13A	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 981031	NM_198935.3(SS18L1):c.961G>A (p.Ala321Thr)	SS18L1 (A190T +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis +1 more	GConflicting classifications of pathogenicity
Select item 981030	NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr)	SETX (I1016T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 981029	NM_006058.5(TNIP1):c.437C>T (p.Ala146Val)	TNIP1 (A146V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 981028	NM_015046.7(SETX):c.2425A>G (p.Ile809Val)	SETX (I809V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 981027	NM_016106.4(SCFD1):c.1297A>G (p.Thr433Ala)	SCFD1 (T248A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 981026	NM_015077.4(SARM1):c.1501T>C (p.Tyr501His)	SARM1 (Y501H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 981025	NM_001199397.3(NEK1):c.107A>G (p.Asn36Ser)	NEK1 (N36S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 981024	NM_021076.4(NEFH):c.2009T>A (p.Val670Glu)	NEFH (V670E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +2 more	GConflicting classifications of pathogenicity
Select item 981023	NM_001393704.1(MOBP):c.514C>A (p.Arg172Ser)	MOBP (R172S +1 more)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 981022	NM_005243.4(EWSR1):c.1393G>A (p.Gly465Ser)	EWSR1 (G409S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 981021	NM_005243.4(EWSR1):c.1783G>A (p.Asp595Asn)	EWSR1 (D539N +3 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 981020	NM_005235.3(ERBB4):c.3176T>C (p.Met1059Thr)	ERBB4 (M1059T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 981019	NM_003315.4(DNAJC7):c.170T>C (p.Met57Thr)	DNAJC7 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 981018	NM_007204.5(DDX20):c.2237T>C (p.Leu746Ser)	DDX20 (L746S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 981017	NM_004928.3(CFAP410):c.642+22G>A	CFAP410 (A221T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 981016	NM_001372574.1(ATXN2):c.2470A>C (p.Ile824Leu)	ATXN2 (I695L +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 976656	NM_001917.5(DAO):c.250G>A (p.Ala84Thr)	DAO (A84T)	Single nucleotide variant (missense variant)	DAO-related disorder	GUncertain significance
Select item 976655	NM_004082.5(DCTN1):c.1864A>T (p.Ile622Phe)	DCTN1 (I488F +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 976654	NM_005235.3(ERBB4):c.3814G>A (p.Gly1272Arg)	ERBB4 (G1256R +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 976653	NM_016106.4(SCFD1):c.209T>C (p.Ile70Thr)	SCFD1 (I3T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 976652	NM_001372574.1(ATXN2):c.18GCA[28] (p.Gln14_Gln28dup)	ATXN2, LOC130008791	Microsatellite (inframe_insertion +2 more)	Amyotrophic lateral sclerosis	Grisk factor
Select item 976650	NM_144599.5(NIPA1):c.24GGC[21] (p.Ala4_Ala16dup)	LOC130056709, NIPA1	Microsatellite (inframe_insertion +1 more)	Amyotrophic lateral sclerosis	Grisk factor
Select item 969429	NM_025137.4(SPG11):c.789A>G (p.Lys263=)	SPG11	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GConflicting classifications of pathogenicity
Select item 961004	NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter)	ALS2 (R741*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 896436	NM_000454.4(SOD1):c.-87G>A	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 885689	NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys)	SPG11 (R540C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 873311	NM_000743.5(CHRNA3):c.1A>G (p.Met1Val)	CHRNA3 (M1V)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873310	NM_000743.5(CHRNA3):c.247_248insG (p.Thr83fs)	CHRNA3 (T83fs)	Insertion (frameshift variant +1 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873309	NM_000743.5(CHRNA3):c.708_709insG (p.Ile237fs)	CHRNA3 (I237fs)	Insertion (frameshift variant +1 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873308	NM_000743.5(CHRNA3):c.725del (p.Leu242fs)	CHRNA3 (L242fs)	Deletion (frameshift variant +1 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873307	NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg)	CHRNA3 (P251R)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873306	NM_006262.4(PRPH):c.190C>T (p.Arg64Ter)	PRPH, TROAP-AS1 (R64*)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873305	NM_000446.7(PON1):c.707A>G (p.Tyr236Cys)	PON1 (Y236C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873303	NM_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg)	PNPLA6 (G1010R +3 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 873302	NM_001166114.2(PNPLA6):c.649G>T (p.Gly217Cys)	PNPLA6 (G178C +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873301	NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln)	FIG4 (R483Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 873300	NM_018091.6(ELP3):c.1385G>A (p.Arg462His)	ELP3 (R343H +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873286	NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys)	DCTN1 (R15C +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis +3 more	GConflicting classifications of pathogenicity
Select item 873285	NM_004082.5(DCTN1):c.2237T>C (p.Leu746Pro)	DCTN1 (L709P +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873284	NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu)	DCTN1 (D711E +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GUncertain significance
Select item 873282	NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys)	DCTN1 (R798C +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis +4 more	GConflicting classifications of pathogenicity
Select item 873281	NM_001917.5(DAO):c.962G>A (p.Gly321Glu)	DAO (G321E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873279	NM_001917.5(DAO):c.212C>T (p.Thr71Ile)	DAO (T71I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873278	NM_001917.5(DAO):c.46G>A (p.Ala16Thr)	DAO (A16T)	Single nucleotide variant (missense variant)	DAO-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 873277	NM_005022.4(PFN1):c.37G>A (p.Ala13Thr)	PFN1 (A13T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873276	NM_001199397.3(NEK1):c.1900G>T (p.Glu634Ter)	NEK1 (E562* +6 more)	Single nucleotide variant (nonsense +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873275	NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)	SETX (R2083I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +3 more	GUncertain significance
Select item 873274	NM_001097577.3(ANG):c.324dup (p.Gly109fs)	ANG, EGILA +1 more (G109fs)	Duplication (frameshift variant +1 more)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873273	NM_005235.3(ERBB4):c.308G>A (p.Arg103His)	ERBB4 (R103H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +1 more	GConflicting classifications of pathogenicity
Select item 873238	NM_005235.3(ERBB4):c.655G>A (p.Gly219Ser)	ERBB4 (G219S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873237	NM_005235.3(ERBB4):c.158A>G (p.Tyr53Cys)	ERBB4 (Y53C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873236	NM_005235.3(ERBB4):c.2518G>A (p.Val840Ile)	ERBB4 (V840I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873210	NM_000750.5(CHRNB4):c.116G>T (p.Arg39Leu)	CHRNB4 (R39L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 873209	NM_000750.5(CHRNB4):c.498C>G (p.Asn166Lys)	CHRNB4 (N166K)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GBenign
Select item 873208	NM_000750.5(CHRNB4):c.1304C>T (p.Ala435Val)	CHRNB4 (A435V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GBenign
Select item 873207	NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr)	CHRNA4 (N219T +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 864757	NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter)	SPTLC1 (R132* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 852864	NM_001008212.2(OPTN):c.1533-3C>T	OPTN	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 12 +5 more	GUncertain significance
Select item 835474	NM_000744.7(CHRNA4):c.979G>A (p.Val327Met)	CHRNA4 (V151M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 807707	NM_013254.4(TBK1):c.992+1G>A	TBK1	Single nucleotide variant (splice donor variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GPathogenic

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