ClinVar (all) for Orgtrack (Select 508824) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064794	NM_000070.3(CAPN3):c.1240T>G (p.Cys414Gly)	CAPN3 (C327G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3028908	NM_032861.4(SERAC1):c.1598C>T (p.Pro533Leu)	SERAC1 (P533L)	Single nucleotide variant (missense variant +1 more)	SERAC1-related neurological disorder	GLikely pathogenic
Select item 2664084	NM_022834.5(VWA1):c.662dup (p.Glu222fs)	VWA1 (E222fs)	Duplication (frameshift variant +1 more)	Neuronopathy, distal hereditary motor	GLikely pathogenic
Select item 2575242	NM_002861.5(PCYT2):c.682G>A (p.Gly228Arg)	PCYT2 (G150R +5 more)	Single nucleotide variant (missense variant)	Spastic paraplegia 82, autosomal recessive	GLikely pathogenic
Select item 2504638	NM_001244008.2(KIF1A):c.1021A>C (p.Thr341Pro)	KIF1A (T341P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 2504637	NM_015915.5(ATL1):c.1208G>C (p.Arg403Pro)	ATL1 (R403P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GLikely pathogenic
Select item 2504616	NM_025137.4(SPG11):c.1313T>C (p.Leu438Pro)	SPG11 (L438P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2504614	NM_000021.4(PSEN1):c.832A>G (p.Arg278Gly)	PSEN1 (R274G +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3	GLikely pathogenic
Select item 2504613	NM_022041.4(GAN):c.280C>T (p.Gln94Ter)	GAN (Q94*)	Single nucleotide variant (nonsense +1 more)	Giant axonal neuropathy	GUncertain significance
Select item 2498194	NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)	MPZ (E71G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2160609	NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser)	RFT1 (G494S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2035801	NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)	KIF1A (A255D)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely pathogenic
Select item 1285129	NM_002860.4(ALDH18A1):c.809-1G>C	ALDH18A1	Single nucleotide variant (splice acceptor variant)	ALDH18A1-related condition	GLikely pathogenic
Select item 989105	NM_014946.4(SPAST):c.1099-1G>A	SPAST	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 947210	NM_000080.4(CHRNE):c.447_459del (p.Val150fs)	C17orf107, CHRNE (V150fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GPathogenic
Select item 864426	NM_014874.4(MFN2):c.1083C>G (p.His361Gln)	MFN2 (H361Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +1 more	GLikely pathogenic
Select item 862181	NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)	CAPN3, LOC126862115 (A133T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor +3 more	GPathogenic/Likely pathogenic
Select item 801442	NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)	MFN2 (T206A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2	GLikely pathogenic
Select item 642794	NM_004820.5(CYP7B1):c.854A>T (p.His285Leu)	CYP7B1 (H285L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GPathogenic
Select item 640715	NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg)	CYP7B1 (H401R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 623751	NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met)	ALDH18A1 (V451M +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 599343	NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)	ADPRS (V335G)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures +1 more	GPathogenic
Select item 545680	NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)	ATP1A1, ATP1A1-AS1 (I592T +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 488354	NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)	ANXA11 (G38R +1 more)	Single nucleotide variant (missense variant)	ANXA11-related condition +1 more	GPathogenic/Likely pathogenic
Select item 447441	NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)	GJB1 (R22*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 335526	NM_002437.5(MPV17):c.373C>T (p.Arg125Trp)	MPV17 (R125W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +2 more	GUncertain significance
Select item 289644	NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	CAPN3 (R489Q +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +4 more	GPathogenic/Likely pathogenic
Select item 279778	NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	CLCN1 (P480fs)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic
Select item 245843	NM_022041.4(GAN):c.944C>T (p.Pro315Leu)	GAN (P315L +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 242902	NM_002437.5(MPV17):c.106C>T (p.Gln36Ter)	MPV17 (Q36*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE +1 more	GConflicting classifications of pathogenicity
Select item 218307	NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	MORC2 (R252W)	Single nucleotide variant (missense variant)	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy +3 more	GPathogenic
Select item 155730	NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	MFN2 (R259C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 127403	NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)	ATM (T1743I)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 44251	NM_001927.4(DES):c.1366G>A (p.Gly456Arg)	DES (G456R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	SPG7-related condition +11 more	GPathogenic/Likely pathogenic
Select item 41335	NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)	SPG11 (L1997fs)	Microsatellite (frameshift variant +1 more)	SPG11-related spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 17545	NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	CLCN1 (R894*)	Single nucleotide variant (nonsense +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 16826	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES (R406W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2271	NM_014874.4(MFN2):c.839G>A (p.Arg280His)	MFN2 (R280H)	Single nucleotide variant (missense variant)	Neuropathy, hereditary motor and sensory, type 6A +5 more	GPathogenic
Select item 1117	NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	SPG11 (E1026fs)	Duplication (frameshift variant)	Abnormal central motor function +3 more	GPathogenic

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Items: 41