paris time - ClinVar

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Items: 61

Showing results for peristome. Your search for peristome retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 539527	NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)	AP4B1, AP4B1-AS1 (R393* +2 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 47	GPathogenic
Select item 156414	NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	AP4B1, AP4B1-AS1 (T219fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 47 +3 more	GPathogenic/Likely pathogenic
Select item 18068	NC_000001.11:g.230710048A>G	AGT	Single nucleotide variant	not provided +2 more	GBenign
Select item 989106	NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)	SPAST (T336P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989079	NM_001244008.2(KIF1A):c.1498-3C>A	KIF1A	Single nucleotide variant (intron variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 373642	NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)	KIF1A (R316Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 418275	NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)	KIF1A (R307Q)	Single nucleotide variant (missense variant)	KIF1A-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 428604	NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)	KIF1A (P305L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GPathogenic/Likely pathogenic
Select item 989197	NM_001244008.2(KIF1A):c.890A>G (p.Lys297Arg)	KIF1A (K297R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GConflicting classifications of pathogenicity
Select item 335278	NM_001244008.2(KIF1A):c.882+8G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 811672	NM_001244008.2(KIF1A):c.865-24CT[2]	KIF1A	Microsatellite (intron variant)	Neuropathy, hereditary sensory, type 2C +4 more	GConflicting classifications of pathogenicity
Select item 211298	NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)	KIF1A (S274L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +4 more	GPathogenic/Likely pathogenic
Select item 989195	NM_001244008.2(KIF1A):c.801G>T (p.Glu267Asp)	KIF1A (E267D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GConflicting classifications of pathogenicity
Select item 464261	NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)	KIF1A (T258M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 208160	NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)	KIF1A (R216C)	Single nucleotide variant (missense variant)	Syndromic intellectual disability +6 more	GPathogenic/Likely pathogenic
Select item 974913	NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)	KIF1A (R167H)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GPathogenic/Likely pathogenic
Select item 162055	NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)	KIF1A (R167C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +3 more	GPathogenic/Likely pathogenic
Select item 373905	NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)	KIF1A (G78S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GPathogenic/Likely pathogenic
Select item 191158	NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)	KIF1A (R75W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 989189	NM_001244008.2(KIF1A):c.217G>T (p.Val73Leu)	KIF1A (V73L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GConflicting classifications of pathogenicity
Select item 188057	NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)	KIF1A (S69L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 162052	NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)	KIF1A (S58L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +5 more	GPathogenic/Likely pathogenic
Select item 654820	NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)	KIF1A (R11Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GPathogenic/Likely pathogenic
Select item 67763	NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)	LOC110121269, SCN5A (R965C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 39503	NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)	CYP2U1 (C262R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56	GPathogenic/Likely pathogenic
Select item 162382	NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)	MFSD8 (R482* +9 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 16371	FIBRINOGEN PARIS 1	FGG	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46290	NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)	ADGRV1 (G573V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46404	NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)	ADGRV1 (R3147Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 973746	NM_006567.5(FARS2):c.251A>C (p.His84Pro)	FARS2, LOC126859565 (H84P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 214334	NM_006567.5(FARS2):c.989G>A (p.Arg330His)	FARS2 (R330H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14 +1 more	GUncertain significance
Select item 973745	NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe)	FARS2 (L139F +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 429663	NM_006567.5(FARS2):c.1256G>A (p.Arg419His)	FARS2 (R419H +2 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 973744	NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter)	FARS2 (S194* +2 more)	Duplication (nonsense)	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 412233	NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)	AP5Z1 (K525Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 664165	NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu)	FLNC (S1194L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 539444	NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile)	FLNC (T1227I)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 967275	NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)	FLNC, FLNC-AS1 (R2377C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 989076	NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser)	WASHC5, WASHC5-AS1 (P770S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 989011	NM_014846.4(WASHC5):c.2645T>A (p.Phe882Tyr)	WASHC5, WASHC5-AS1 (F734Y +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GPathogenic
Select item 578334	NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)	WASHC5 (G696D +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GPathogenic/Likely pathogenic
Select item 410079	NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)	WASHC5 (G696S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GPathogenic/Likely pathogenic
Select item 1161	NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	WASHC5 (V626F +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +4 more	GPathogenic/Likely pathogenic
Select item 463137	NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)	WASHC5 (S591P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GPathogenic/Likely pathogenic
Select item 573698	NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)	WASHC5 (R583G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GConflicting classifications of pathogenicity
Select item 989010	NM_014846.4(WASHC5):c.1474A>C (p.Thr492Pro)	WASHC5 (T344P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GPathogenic
Select item 280124	NM_007126.5(VCP):c.283C>T (p.Arg95Cys)	VCP (R95C +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +6 more	GConflicting classifications of pathogenicity
Select item 565422	NM_001003800.2(BICD2):c.2515G>A (p.Gly839Arg)	BICD2 (G839R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 969427	NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)	KIF5A (R627Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +1 more	GConflicting classifications of pathogenicity
Select item 52472	NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)	BRCA2 (G267E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 234924	NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	AP4S1 (R97*)	Single nucleotide variant (nonsense)	Spastic paraplegia 52, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 989217	NM_025137.4(SPG11):c.6343+5G>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11 +1 more	GConflicting classifications of pathogenicity
Select item 1117	NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	SPG11 (E1026fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 647629	NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln)	SLC12A3 (R157Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 183105	NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	LDLR (G335S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 36461	NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)	LDLR (T726I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 431156	NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)	ATP1A3 (D742Y +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GLikely pathogenic
Select item 431154	NM_152296.5(ATP1A3):c.460A>G (p.Met154Val)	ATP1A3 (M154V +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	GLikely pathogenic
Select item 626916	NM_004595.5(SMS):c.908_911del (p.Met303fs)	SMS (M303fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Snyder type	GPathogenic
Select item 97350	NM_000531.6(OTC):c.903A>T (p.Leu301Phe)	OTC (L301F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic/Likely pathogenic
Select item 431119	NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val)	ATRX (A1622V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 61