Spata5l1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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10 records found for search term Spata5l1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8627649	CV82793	single nucleotide variant	NM_024063.2(SPATA5L1):c.2182C>T (p.Pro728Ser)	Malignant melanoma [RCV000062873]	not provided	15	45421130	45421130	Human		name
8635482	CV90703	single nucleotide variant	NM_024063.2(SPATA5L1):c.1126G>A (p.Glu376Lys)	Malignant melanoma [RCV000070801]	not provided	15	45405356	45405356	Human		name
38598843	CV964865	single nucleotide variant	NM_024063.3(AFG2B):c.1090-2A>G	SPATA5L1-associated disorder [RCV001254127]	pathogenic	15	45405318	45405318	Human		trait
38598848	CV964868	single nucleotide variant	NM_024063.3(AFG2B):c.1973G>A (p.Arg658Lys)	SPATA5L1-associated disorder [RCV001254130]	likely pathogenic	15	45418561	45418561	Human		trait
38598850	CV964870	deletion	NM_024063.3(AFG2B):c.2176_2177del (p.Val726fs)	SPATA5L1-associated disorder [RCV001254132]	pathogenic	15	45421123	45421124	Human		trait
153348485	CV1692522	single nucleotide variant	NM_024063.3(AFG2B):c.2087G>T (p.Cys696Phe)	Neurodevelopmental delay [RCV002274376]\|SPATA5L1-related disorder [RCV005429080]\|not provided [RCV003320882]	likely pathogenic\|uncertain significance\|not provided	15	45418675	45418675	Human	2	trait
38598898	CV964864	single nucleotide variant	NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	AFG2B-related disorder [RCV003416130]\|Hearing loss, autosomal recessive 119 [RCV001779143]\|Inborn genetic diseases [RCV005328661]\|Neurodevelopmental delay [RCV002274164]\|Neurodevelopmental disorder with hearing loss and spasticity [RCV001779144]\|SPATA5L1-associa ... (more) ted disorder [RCV001254169]\|SPATA5L1-related disorder [RCV005429052]\|See cases [RCV001580190]\|not provided [RCV001879881]	pathogenic\|likely pathogenic\|not provided	15	45402956	45402956	Human	4	trait
38598844	CV964866	single nucleotide variant	NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)	AFG2B-related disorder [RCV003399031]\|Neurodevelopmental disorder with hearing loss and spasticity [RCV001779141]\|SPATA5L1-associated disorder [RCV001254128]\|See cases [RCV001838468]\|not provided [RCV003883592]	pathogenic\|likely pathogenic	15	45405429	45405429	Human	2	trait
38598846	CV964867	single nucleotide variant	NM_024063.3(AFG2B):c.1556C>A (p.Ala519Asp)	Neurodevelopmental disorder with hearing loss and spasticity [RCV002290666]\|SPATA5L1-associated disorder [RCV001254129]	likely pathogenic\|uncertain significance	15	45414692	45414692	Human	1	trait
38598849	CV964869	single nucleotide variant	NM_024063.3(AFG2B):c.2006T>G (p.Met669Arg)	Neurodevelopmental disorder with hearing loss and spasticity [RCV001779142]\|SPATA5L1-associated disorder [RCV001254131]	pathogenic\|likely pathogenic	15	45418594	45418594	Human	1	trait