24215[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 109

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 720936	NM_020410.3(ATP13A1):c.3576G>A (p.Gln1192=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131373	NM_020410.3(ATP13A1):c.3568G>A (p.Val1190Ile)	ATP13A1 (V1190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131371	NM_020410.3(ATP13A1):c.3565C>T (p.Arg1189Cys)	ATP13A1 (R1189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327812	NM_020410.3(ATP13A1):c.3551C>T (p.Ala1184Val)	ATP13A1 (A1184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479905	NM_020410.3(ATP13A1):c.3495C>G (p.Ile1165Met)	ATP13A1 (I1165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131370	NM_020410.3(ATP13A1):c.3445C>T (p.Leu1149Phe)	ATP13A1 (L1149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292453	NM_020410.3(ATP13A1):c.3437T>C (p.Ile1146Thr)	ATP13A1 (I1146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131369	NM_020410.3(ATP13A1):c.3262G>A (p.Val1088Met)	ATP13A1 (V1088M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769451	NM_020410.3(ATP13A1):c.3256C>G (p.Gln1086Glu)	ATP13A1 (Q1086E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2476440	NM_020410.3(ATP13A1):c.3244G>A (p.Glu1082Lys)	ATP13A1 (E1082K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740808	NM_020410.3(ATP13A1):c.3243C>T (p.Pro1081=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299957	NM_020410.3(ATP13A1):c.3221G>A (p.Arg1074His)	ATP13A1 (R1074H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300783	NM_020410.3(ATP13A1):c.3198C>A (p.Phe1066Leu)	ATP13A1 (F1066L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781744	NM_020410.3(ATP13A1):c.3189T>G (p.Phe1063Leu)	ATP13A1 (F1063L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2227306	NM_020410.3(ATP13A1):c.3163A>G (p.Ile1055Val)	ATP13A1 (I1055V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466078	NM_020410.3(ATP13A1):c.3158A>G (p.Tyr1053Cys)	ATP13A1 (Y1053C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599557	NM_020410.3(ATP13A1):c.3097C>T (p.Arg1033Cys)	ATP13A1 (R1033C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649611	NM_020410.3(ATP13A1):c.3054C>G (p.Thr1018=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472805	NM_020410.3(ATP13A1):c.2951C>T (p.Thr984Met)	ATP13A1 (T984M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320515	NM_020410.3(ATP13A1):c.2948C>T (p.Thr983Ile)	ATP13A1 (T983I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546369	NM_020410.3(ATP13A1):c.2833A>C (p.Ser945Arg)	ATP13A1 (S945R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454330	NM_020410.3(ATP13A1):c.2816G>A (p.Arg939Gln)	ATP13A1 (R939Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258607	NM_020410.3(ATP13A1):c.2732C>G (p.Ser911Cys)	ATP13A1 (S911C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458149	NM_020410.3(ATP13A1):c.2701A>G (p.Thr901Ala)	ATP13A1 (T901A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246245	NM_020410.3(ATP13A1):c.2687C>T (p.Pro896Leu)	ATP13A1 (P896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519120	NM_020410.3(ATP13A1):c.2671G>A (p.Glu891Lys)	ATP13A1 (E891K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207973	NM_020410.3(ATP13A1):c.2651A>G (p.Asn884Ser)	ATP13A1 (N884S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236690	NM_020410.3(ATP13A1):c.2650A>G (p.Asn884Asp)	ATP13A1 (N884D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752477	NM_020410.3(ATP13A1):c.2643C>T (p.Leu881=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716503	NM_020410.3(ATP13A1):c.2640G>T (p.Ala880=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769966	NM_020410.3(ATP13A1):c.2610C>T (p.Gly870=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2271758	NM_020410.3(ATP13A1):c.2515C>T (p.Arg839Cys)	ATP13A1 (R839C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216564	NM_020410.3(ATP13A1):c.2512G>A (p.Ala838Thr)	ATP13A1 (A838T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623270	NM_020410.3(ATP13A1):c.2471C>T (p.Pro824Leu)	ATP13A1 (P824L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595533	NM_020410.3(ATP13A1):c.2443G>A (p.Gly815Ser)	ATP13A1 (G815S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489777	NM_020410.3(ATP13A1):c.2431C>T (p.Leu811Phe)	ATP13A1 (L811F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131368	NM_020410.3(ATP13A1):c.2420A>G (p.Tyr807Cys)	ATP13A1 (Y807C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131367	NM_020410.3(ATP13A1):c.2383C>A (p.Leu795Met)	ATP13A1 (L795M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349493	NM_020410.3(ATP13A1):c.2374G>A (p.Val792Met)	ATP13A1 (V792M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783827	NM_020410.3(ATP13A1):c.2364C>T (p.Asp788=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131366	NM_020410.3(ATP13A1):c.2343G>T (p.Gln781His)	ATP13A1 (Q781H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131365	NM_020410.3(ATP13A1):c.2257A>G (p.Thr753Ala)	ATP13A1 (T753A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529492	NM_020410.3(ATP13A1):c.2224C>T (p.Arg742Trp)	ATP13A1 (R742W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356827	NM_020410.3(ATP13A1):c.2084A>T (p.His695Leu)	ATP13A1 (H695L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411683	NM_020410.3(ATP13A1):c.2027C>T (p.Thr676Ile)	ATP13A1 (T676I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535648	NM_020410.3(ATP13A1):c.1998G>C (p.Gln666His)	ATP13A1 (Q666H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527269	NM_020410.3(ATP13A1):c.1994C>T (p.Ser665Phe)	ATP13A1 (S665F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131364	NM_020410.3(ATP13A1):c.1744G>A (p.Asp582Asn)	ATP13A1 (D582N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131363	NM_020410.3(ATP13A1):c.1737G>C (p.Gln579His)	ATP13A1 (Q579H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131362	NM_020410.3(ATP13A1):c.1706G>A (p.Arg569Gln)	ATP13A1 (R569Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782329	NM_020410.3(ATP13A1):c.1666G>A (p.Glu556Lys)	ATP13A1 (E556K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2313637	NM_020410.3(ATP13A1):c.1660G>A (p.Gly554Arg)	ATP13A1 (G554R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649612	NM_020410.3(ATP13A1):c.1590C>T (p.Cys530=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131361	NM_020410.3(ATP13A1):c.1393G>C (p.Glu465Gln)	ATP13A1 (E465Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592422	NM_020410.3(ATP13A1):c.1333T>C (p.Phe445Leu)	ATP13A1 (F445L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649613	NM_020410.3(ATP13A1):c.1308G>A (p.Arg436=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252516	NM_020410.3(ATP13A1):c.1221C>A (p.Asp407Glu)	ATP13A1 (D407E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131360	NM_020410.3(ATP13A1):c.1202C>T (p.Thr401Met)	ATP13A1 (T401M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604543	NM_020410.3(ATP13A1):c.1145A>G (p.His382Arg)	ATP13A1 (H382R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330934	NM_020410.3(ATP13A1):c.1139G>A (p.Arg380Gln)	ATP13A1 (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752335	NM_020410.3(ATP13A1):c.1122C>T (p.Asp374=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316218	NM_020410.3(ATP13A1):c.1103G>A (p.Ser368Asn)	ATP13A1 (S368N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472025	NM_020410.3(ATP13A1):c.1078A>T (p.Met360Leu)	ATP13A1 (M360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769967	NM_020410.3(ATP13A1):c.1068C>T (p.Ser356=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3064158	NM_020410.3(ATP13A1):c.1045G>A (p.Glu349Lys)	ATP13A1 (E349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131359	NM_020410.3(ATP13A1):c.1039G>A (p.Val347Ile)	ATP13A1 (V347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131358	NM_020410.3(ATP13A1):c.1030C>A (p.Arg344Ser)	ATP13A1 (R344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248225	NM_020410.3(ATP13A1):c.980G>A (p.Arg327His)	ATP13A1 (R327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131379	NM_020410.3(ATP13A1):c.964A>G (p.Ile322Val)	ATP13A1 (I322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326157	NM_020410.3(ATP13A1):c.937G>T (p.Ala313Ser)	ATP13A1 (A313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509276	NM_020410.3(ATP13A1):c.875G>A (p.Arg292Gln)	ATP13A1 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315499	NM_020410.3(ATP13A1):c.836C>T (p.Ser279Leu)	ATP13A1 (S279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717966	NM_020410.3(ATP13A1):c.810A>G (p.Leu270=)	ATP13A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2204367	NM_020410.3(ATP13A1):c.682G>A (p.Glu228Lys)	ATP13A1 (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719051	NM_020410.3(ATP13A1):c.672C>G (p.Ser224Arg)	ATP13A1 (S224R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2283531	NM_020410.3(ATP13A1):c.638C>T (p.Ser213Leu)	ATP13A1 (S213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318100	NM_020410.3(ATP13A1):c.574G>A (p.Val192Met)	ATP13A1 (V192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463881	NM_020410.3(ATP13A1):c.517G>A (p.Glu173Lys)	ATP13A1 (E173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789348	NM_020410.3(ATP13A1):c.496G>A (p.Gly166Arg)	ATP13A1 (G166R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2244680	NM_020410.3(ATP13A1):c.416C>T (p.Ala139Val)	ATP13A1 (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131374	NM_020410.3(ATP13A1):c.413A>G (p.Lys138Arg)	ATP13A1 (K138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483283	NM_020410.3(ATP13A1):c.394C>G (p.Pro132Ala)	ATP13A1, LOC106783503 (P132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320660	NM_020410.3(ATP13A1):c.392C>T (p.Thr131Ile)	ATP13A1, LOC106783503 (T131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492285	NM_020410.3(ATP13A1):c.377G>C (p.Cys126Ser)	ATP13A1, LOC106783503 (C126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606563	NM_020410.3(ATP13A1):c.275G>T (p.Ser92Ile)	ATP13A1, LOC106783503 (S92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374498	NM_020410.3(ATP13A1):c.272G>A (p.Ser91Asn)	ATP13A1, LOC106783503 (S91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344951	NM_020410.3(ATP13A1):c.248C>T (p.Ala83Val)	ATP13A1, LOC106783503 (A83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562067	NM_020410.3(ATP13A1):c.176T>C (p.Leu59Ser)	ATP13A1, LOC106783503 (L59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407445	NM_020410.3(ATP13A1):c.94C>A (p.Pro32Thr)	ATP13A1, LOC106783503 (P32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131378	NM_020410.3(ATP13A1):c.85G>T (p.Gly29Trp)	ATP13A1, LOC106783503 (G29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607589	NM_020410.3(ATP13A1):c.67G>A (p.Asp23Asn)	ATP13A1, LOC106783503 (D23N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131375	NM_020410.3(ATP13A1):c.50C>T (p.Pro17Leu)	ATP13A1, LOC106783503 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365323	NM_020410.3(ATP13A1):c.43G>A (p.Ala15Thr)	ATP13A1, LOC106783503 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242572	NM_020410.3(ATP13A1):c.40G>A (p.Gly14Arg)	ATP13A1, LOC106783503 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743404	NM_020410.3(ATP13A1):c.33G>T (p.Val11=)	ATP13A1, LOC106783503	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256943	NM_020410.3(ATP13A1):c.29C>T (p.Ala10Val)	ATP13A1, LOC106783503 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2