ClinVar for Gene (Select 55275) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189026	NM_001128159.3(VPS53):c.993T>G (p.Ile331Met)	VPS53 (I133M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189025	NM_001128159.3(VPS53):c.89T>C (p.Val30Ala)	VPS53 (V30A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189024	NM_001128159.3(VPS53):c.815T>A (p.Phe272Tyr)	VPS53 (F243Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189023	NM_001128159.3(VPS53):c.412G>A (p.Ala138Thr)	VPS53 (A109T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189022	NM_001128159.3(VPS53):c.386C>G (p.Thr129Ser)	VPS53 (T100S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189021	NM_001128159.3(VPS53):c.280C>T (p.Arg94Trp)	VPS53 (R94W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189020	NM_001128159.3(VPS53):c.2011G>T (p.Ala671Ser)	VPS53 (A642S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189019	NM_001128159.3(VPS53):c.1778C>T (p.Thr593Met)	VPS53 (T564M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189018	NM_001128159.3(VPS53):c.1130C>A (p.Ser377Tyr)	LOC126862457, VPS53 (S348Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068938	NC_000017.10:g.(465986_489509)_(489605_505034)dup	VPS53	Duplication	Pontoneocerebellar hypoplasia	GLikely pathogenic
Select item 3063530	GRCh37/hg19 17p13.3(chr17:124754-643426)x1	LIAT1, RFLNB +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3063481	GRCh37/hg19 17p13.3(chr17:141345-699175)x1	GEMIN4, GLOD4 +6 more	Copy number loss	not specified	GPathogenic
Select item 3061734	NM_001128159.3(VPS53):c.*2A>G	VPS53	Single nucleotide variant (3 prime UTR variant)	VPS53-related disorder	GLikely benign
Select item 3054678	NM_001128159.3(VPS53):c.1344G>A (p.Val448=)	VPS53	Single nucleotide variant (synonymous variant)	VPS53-related disorder	GLikely benign
Select item 3051051	NM_001128159.3(VPS53):c.609-5C>G	VPS53	Single nucleotide variant (intron variant)	VPS53-related disorder	GLikely benign
Select item 3048359	NM_001128159.3(VPS53):c.172C>T (p.Leu58=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	VPS53-related disorder	GLikely benign
Select item 3030618	NM_001128159.3(VPS53):c.-3G>A	VPS53	Single nucleotide variant (5 prime UTR variant)	VPS53-related disorder	GLikely benign
Select item 3023952	NM_001128159.3(VPS53):c.324T>C (p.Phe108=)	VPS53	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3023359	NM_001128159.3(VPS53):c.687+18C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021570	NM_001128159.3(VPS53):c.162C>T (p.Thr54=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018310	NM_001128159.3(VPS53):c.87+9T>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016213	NM_001128159.3(VPS53):c.687+7C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011667	NM_001128159.3(VPS53):c.1219-10G>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009546	NM_001128159.3(VPS53):c.2427G>C (p.Leu809=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008764	NM_001128159.3(VPS53):c.1137C>A (p.Pro379=)	LOC126862457, VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008730	NM_001128159.3(VPS53):c.1557-9T>C	LOC126862456, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007057	NM_001128159.3(VPS53):c.585G>A (p.Pro195=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005944	NM_001128159.3(VPS53):c.2329-19G>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005376	NM_001128159.3(VPS53):c.516A>G (p.Gly172=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004135	NM_001128159.3(VPS53):c.567C>T (p.His189=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003686	NM_001128159.3(VPS53):c.1440G>A (p.Lys480=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003585	NM_001128159.3(VPS53):c.1797C>T (p.Ser599=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002197	NM_001128159.3(VPS53):c.975-12T>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001993	NM_001128159.3(VPS53):c.66G>A (p.Glu22=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3001984	NM_001128159.3(VPS53):c.2224-7G>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001287	NM_001128159.3(VPS53):c.906C>T (p.Tyr302=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000877	NM_001128159.3(VPS53):c.1218+10G>A	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000807	NM_001128159.3(VPS53):c.945G>A (p.Arg315=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000677	NM_001128159.3(VPS53):c.608+9T>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000620	NM_001128159.3(VPS53):c.414C>T (p.Ala138=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000456	NM_001128159.3(VPS53):c.687+9T>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000214	NM_001128159.3(VPS53):c.608+14A>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000158	NM_001128159.3(VPS53):c.1422C>A (p.Leu474=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000007	NM_001128159.3(VPS53):c.286-16A>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998772	NM_001128159.3(VPS53):c.2370G>A (p.Leu790=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997636	NM_001128159.3(VPS53):c.2133C>T (p.Pro711=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996192	NM_001128159.3(VPS53):c.1461G>A (p.Gln487=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996016	NM_001128159.3(VPS53):c.608+13C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995898	NM_001128159.3(VPS53):c.687+19C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995694	NM_001128159.3(VPS53):c.486C>T (p.Leu162=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995512	NM_001128159.3(VPS53):c.2202C>T (p.Thr734=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994328	NM_001128159.3(VPS53):c.1488C>A (p.Ala496=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994206	NM_001128159.3(VPS53):c.1219-12T>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993963	NM_001128159.3(VPS53):c.477C>T (p.Val159=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993120	NM_001128159.3(VPS53):c.2124C>T (p.Leu708=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993033	NM_001128159.3(VPS53):c.1281T>G (p.Pro427=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992691	NM_001128159.3(VPS53):c.312C>A (p.Ile104=)	VPS53	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2992690	NM_001128159.3(VPS53):c.373-10C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992520	NM_001128159.3(VPS53):c.1218+16G>T	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992400	NM_001128159.3(VPS53):c.321C>G (p.Leu107=)	VPS53	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2992130	NM_001128159.3(VPS53):c.321C>T (p.Leu107=)	VPS53	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2991805	NM_001128159.3(VPS53):c.2328+8C>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990935	NM_001128159.3(VPS53):c.1117-6T>C	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990532	NM_001128159.3(VPS53):c.974+18A>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990333	NM_001128159.3(VPS53):c.975-16T>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990332	NM_001128159.3(VPS53):c.2015+20C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989318	NM_001128159.3(VPS53):c.2151G>A (p.Val717=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988871	NM_001128159.3(VPS53):c.219-6dup	VPS53	Duplication (intron variant)	not provided	GBenign
Select item 2988248	NM_001128159.3(VPS53):c.306A>G (p.Lys102=)	VPS53	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2987434	NM_001128159.3(VPS53):c.687+13G>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986153	NM_001128159.3(VPS53):c.87+15C>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985429	NM_001128159.3(VPS53):c.87+18C>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984145	NM_001128159.3(VPS53):c.1117-15A>C	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983134	NM_001128159.3(VPS53):c.975-15C>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983044	NM_001128159.3(VPS53):c.169-11C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981441	NM_001128159.3(VPS53):c.1117-13A>G	LOC126862457, VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981393	NM_001128159.3(VPS53):c.1116+17G>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981166	NM_001128159.3(VPS53):c.87+11dup	VPS53	Duplication (intron variant)	not provided	GLikely benign
Select item 2980735	NM_001128159.3(VPS53):c.1313+12A>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980605	NM_001128159.3(VPS53):c.2016-27_2016-19del	VPS53	Deletion (intron variant)	not provided	GLikely benign
Select item 2979799	NM_001128159.3(VPS53):c.1779G>A (p.Thr593=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979487	NM_001128159.3(VPS53):c.150C>G (p.Thr50=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979291	NM_001128159.3(VPS53):c.1779G>T (p.Thr593=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979009	NM_001128159.3(VPS53):c.111A>G (p.Leu37=)	VPS53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978925	NM_001128159.3(VPS53):c.87+18C>A	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978706	NM_001128159.3(VPS53):c.489-15A>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977305	NM_001128159.3(VPS53):c.2223+9T>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976884	NM_001128159.3(VPS53):c.2328+9C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976524	NM_001128159.3(VPS53):c.1494C>T (p.Thr498=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976505	NM_001128159.3(VPS53):c.192C>T (p.Val64=)	VPS53	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2976489	NM_001128159.3(VPS53):c.88-16C>T	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976360	NM_001128159.3(VPS53):c.488+7A>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975806	NM_001128159.3(VPS53):c.831+15A>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975689	NM_001128159.3(VPS53):c.88-14C>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975186	NM_001128159.3(VPS53):c.286-15T>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974925	NM_001128159.3(VPS53):c.1705-9T>C	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974855	NM_001128159.3(VPS53):c.372+20T>G	VPS53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974697	NM_001128159.3(VPS53):c.2385C>T (p.Pro795=)	VPS53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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