ClinVar (all) for Orgtrack (Select 507671) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 770696	NM_005235.3(ERBB4):c.1122T>G (p.His374Gln)	ERBB4 (H374Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +2 more	GConflicting classifications of pathogenicity
Select item 717612	NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe)	CAPN14 (L417F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 619143	NM_001003722.2(GLE1):c.2078C>T (p.Ser693Phe)	GLE1, LOC101929270 (S693F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 448333	NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)	SETX (E1770fs)	Microsatellite (frameshift variant)	Amyotrophic lateral sclerosis +5 more	GPathogenic/Likely pathogenic
Select item 424687	NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)	SETX (D1077N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 413995	NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)	SPG11 (Y886H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +4 more	GConflicting classifications of pathogenicity
Select item 406532	NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)	SPG11 (S1142C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 377350	NM_015158.5(KANK1):c.149A>T (p.Asp50Val)	KANK1 (D50V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 374112	NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	SPG11 (L1794P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +7 more	GConflicting classifications of pathogenicity
Select item 337096	NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)	DCTN1 (I159V +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis +5 more	GConflicting classifications of pathogenicity
Select item 333592	NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)	ALS2 (G1069E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +5 more	GConflicting classifications of pathogenicity
Select item 309950	NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)	KIF5A (T976I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +4 more	GConflicting classifications of pathogenicity
Select item 259232	NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)	DCTN1 (R361Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 241599	NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	SPG11 (K2419R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GConflicting classifications of pathogenicity
Select item 240087	NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)	KIF5A (P986L +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 235362	NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)	SPG11 (D2253E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GConflicting classifications of pathogenicity
Select item 219609	NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)	SPG11 (D566E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 216771	NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)	SPG11 (G6R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +5 more	GConflicting classifications of pathogenicity
Select item 194676	NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)	SPG11 (K1013E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GConflicting classifications of pathogenicity
Select item 155748	NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	SETX (I2547T +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +5 more	GConflicting classifications of pathogenicity

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Items: 49