C0557874[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812756	NM_014704.4(CEP104):c.89del (p.Thr30fs)	CEP104 (T30fs)	Deletion (frameshift variant)	Cerebellar ataxia +2 more	GPathogenic
Select item 37134	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1 (E257K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 812757	NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)	SLC2A1 (E246fs)	Microsatellite (frameshift variant)	Encephalopathy due to GLUT1 deficiency +2 more	GPathogenic
Select item 812758	NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)	RPE65 (Q362*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 812987	NM_001040142.2(SCN2A):c.1270G>T (p.Val424Leu)	SCN2A (V424L)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 68578	NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	SCN1A (T226M)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +6 more	GPathogenic
Select item 197187	NM_001165963.4(SCN1A):c.602+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +7 more	GPathogenic
Select item 812988	NC_000002.12:g.201705201del	ALS2	Deletion (genic downstream transcript variant)	Limb dystonia +5 more	GLikely pathogenic
Select item 812761	NM_003042.4(SLC6A1):c.167C>T (p.Ser56Phe)	SLC6A1, SLC6A1-AS1 (S56F)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +1 more	GLikely pathogenic
Select item 812762	NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe)	NGLY1 (C253F +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GUncertain significance
Select item 402130	NM_138615.3(DHX30):c.1685A>G (p.His562Arg)	DHX30 (H562R +2 more)	Single nucleotide variant (missense variant)	Sleep abnormality +6 more	GPathogenic
Select item 812763	NM_004733.4(SLC33A1):c.963+1G>A	SLC33A1	Single nucleotide variant (splice donor variant +1 more)	Hypothyroidism +2 more	GLikely pathogenic
Select item 96125	NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	SRD5A3 (W19*)	Single nucleotide variant (nonsense)	SRD5A3-congenital disorder of glycosylation +3 more	GPathogenic
Select item 812923	NC_000005.10:g.139189727_139201554del	SIL1	Deletion	Global developmental delay +8 more	GPathogenic
Select item 221295	NM_020771.4(HACE1):c.805C>T (p.Arg269Ter)	HACE1 (R269* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 225633	NM_001385079.1(PDE10A):c.1118A>G (p.Tyr373Cys)	PDE10A (Y107C +2 more)	Single nucleotide variant (missense variant)	Infantile-onset generalized dyskinesia with orofacial involvement +2 more	GPathogenic/Likely pathogenic
Select item 430922	NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	CAMK2B (P139L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 54 +3 more	GPathogenic/Likely pathogenic
Select item 281269	NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	ARFGEF1-DT, CPA6 (G267R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 393467	NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	CPA6 (Q207E)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 812992	NM_152564.5(VPS13B):c.4745+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GPathogenic
Select item 812993	NM_152564.5(VPS13B):c.11699_11702dup (p.Val3903fs)	VPS13B (V3903fs +1 more)	Duplication (frameshift variant)	Myopia +7 more	GLikely pathogenic
Select item 812770	NM_001032221.6(STXBP1):c.1359+1G>T	STXBP1	Single nucleotide variant (splice donor variant)	Autism +1 more	GPathogenic
Select item 375502	NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)	EBF3 (E94fs)	Deletion (frameshift variant)	Generalized hypotonia +7 more	GPathogenic
Select item 160161	NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	TUBA1A (R2H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 192317	NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)	SCN8A (N984K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GPathogenic
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 812775	NM_002150.3(HPD):c.1049T>C (p.Val350Ala)	HPD (V350A +1 more)	Single nucleotide variant (missense variant)	Limb dystonia +5 more	GLikely pathogenic
Select item 453289	NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)	FOXG1 (Y208*)	Single nucleotide variant (nonsense)	Rett syndrome, congenital variant	GPathogenic
Select item 207501	NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)	TBC1D24 (S202L)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 812998	NM_001199107.2(TBC1D24):c.901C>T (p.Gln301Ter)	TBC1D24 (Q301*)	Single nucleotide variant (nonsense)	Global developmental delay +4 more	GLikely pathogenic
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 287037	NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)	SGSH	Deletion (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 30459	NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	SGSH (S298P)	Single nucleotide variant (missense variant +1 more)	Sanfilippo syndrome +2 more	GPathogenic
Select item 426517	NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)	ASXL3 (S1155*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 813001	NM_030632.3(ASXL3):c.4376del (p.Gly1459fs)	ASXL3 (G1459fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 267792	NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)	TUBB4A (M439I +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GPathogenic
Select item 812928	NM_017721.5(CC2D1A):c.378+137_1641+1157del	CC2D1A, LOC129391070	Deletion (splice acceptor variant +1 more)	Cerebral palsy +2 more	GLikely pathogenic
Select item 451026	NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)	PIGT (G360V +2 more)	Single nucleotide variant (missense variant +2 more)	Multiple congenital anomalies-hypotonia-seizures syndrome 3 +3 more	GPathogenic
Select item 812787	NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)	TP53RK (R243C)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 812788	NM_033550.4(TP53RK):c.128C>T (p.Ala43Val)	TP53RK (A43V)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GLikely pathogenic
Select item 205915	NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	KCNQ2 (R560W +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 162153	NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)	DYRK1A (R205* +2 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 6196	NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)	PLA2G6 (K545T +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive Parkinson disease 14 +1 more	GPathogenic/Likely pathogenic
Select item 587762	NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter)	SHANK3 (R91* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812930	NC_000022.11:g.20042177_20075233del	TANGO2	Deletion	Hereditary episodic ataxia +2 more	GPathogenic
Select item 813006	NM_001029896.2(WDR45):c.225dup (p.Glu76fs)	LOC126863256, WDR45 (E76fs)	Duplication (frameshift variant)	Autism +2 more	GLikely pathogenic
Select item 418996	NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs)	SLC9A6 (F350fs +3 more)	Deletion (frameshift variant)	Christianson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 813270	Single allele	PNPLA4, PUDP +2 more	Deletion	Ichthyosis +2 more	GPathogenic
Select item 812932	Single allele	CASK	Deletion	Microcephaly +2 more	GLikely pathogenic
Select item 812931	NC_000023.11:g.41506506_41542250del	CASK	Deletion	Congenital cerebellar hypoplasia +4 more	GLikely pathogenic

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Items: 50