ClinVar for Gene (Select 344905) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328289	NM_198505.4(ATP13A5):c.3271T>C (p.Phe1091Leu)	ATP13A5, PLAAT1 (F1091L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328285	NM_198505.4(ATP13A5):c.1978C>T (p.Leu660Phe)	ATP13A5 (L660F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328277	NM_198505.4(ATP13A5):c.24C>A (p.Asp8Glu)	ATP13A5 (D8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328267	NM_198505.4(ATP13A5):c.395T>C (p.Met132Thr)	ATP13A5 (M132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328256	NM_198505.4(ATP13A5):c.1363G>A (p.Val455Met)	ATP13A5 (V455M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328246	NM_198505.4(ATP13A5):c.442T>C (p.Phe148Leu)	ATP13A5 (F148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328234	NM_198505.4(ATP13A5):c.2687G>A (p.Arg896Gln)	ATP13A5 (R896Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328225	NM_198505.4(ATP13A5):c.1097C>T (p.Ala366Val)	ATP13A5 (A366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3131461	NM_198505.4(ATP13A5):c.977C>T (p.Pro326Leu)	ATP13A5 (P326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131460	NM_198505.4(ATP13A5):c.941C>T (p.Thr314Ile)	ATP13A5 (T314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131459	NM_198505.4(ATP13A5):c.83A>G (p.Asp28Gly)	ATP13A5 (D28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131458	NM_198505.4(ATP13A5):c.836G>A (p.Arg279His)	ATP13A5 (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131457	NM_198505.4(ATP13A5):c.706A>G (p.Ile236Val)	ATP13A5 (I236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131456	NM_198505.4(ATP13A5):c.621C>A (p.Phe207Leu)	ATP13A5 (F207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131455	NM_198505.4(ATP13A5):c.540A>T (p.Arg180Ser)	ATP13A5 (R180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131454	NM_198505.4(ATP13A5):c.434A>G (p.Glu145Gly)	ATP13A5 (E145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131453	NM_198505.4(ATP13A5):c.396G>T (p.Met132Ile)	ATP13A5 (M132I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131452	NM_198505.4(ATP13A5):c.3590A>G (p.Gln1197Arg)	ATP13A5, PLAAT1 (Q1197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131451	NM_198505.4(ATP13A5):c.3558C>G (p.Phe1186Leu)	ATP13A5, PLAAT1 (F1186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131450	NM_198505.4(ATP13A5):c.3521A>G (p.Asn1174Ser)	ATP13A5, PLAAT1 (N1174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131448	NM_198505.4(ATP13A5):c.2923C>T (p.Leu975Phe)	ATP13A5 (L975F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131447	NM_198505.4(ATP13A5):c.2855C>T (p.Ser952Leu)	ATP13A5 (S952L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131446	NM_198505.4(ATP13A5):c.281A>G (p.Tyr94Cys)	ATP13A5 (Y94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131445	NM_198505.4(ATP13A5):c.2729C>T (p.Thr910Ile)	ATP13A5 (T910I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131444	NM_198505.4(ATP13A5):c.2698G>A (p.Val900Ile)	ATP13A5 (V900I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131443	NM_198505.4(ATP13A5):c.2453T>C (p.Val818Ala)	ATP13A5, ATP13A5-AS1 (V818A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131442	NM_198505.4(ATP13A5):c.2357G>A (p.Arg786His)	ATP13A5, ATP13A5-AS1 (R786H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131441	NM_198505.4(ATP13A5):c.2356C>T (p.Arg786Cys)	ATP13A5, ATP13A5-AS1 (R786C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131440	NM_198505.4(ATP13A5):c.2295C>A (p.Asn765Lys)	ATP13A5, ATP13A5-AS1 (N765K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131439	NM_198505.4(ATP13A5):c.2212C>G (p.Pro738Ala)	ATP13A5, ATP13A5-AS1 (P738A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131438	NM_198505.4(ATP13A5):c.2206A>T (p.Ile736Phe)	ATP13A5, ATP13A5-AS1 (I736F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131437	NM_198505.4(ATP13A5):c.1809C>G (p.Ser603Arg)	ATP13A5 (S603R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131436	NM_198505.4(ATP13A5):c.1685A>G (p.Asp562Gly)	ATP13A5 (D562G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131435	NM_198505.4(ATP13A5):c.1621G>A (p.Gly541Arg)	ATP13A5 (G541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131434	NM_198505.4(ATP13A5):c.1207G>A (p.Val403Met)	ATP13A5 (V403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131433	NM_198505.4(ATP13A5):c.1078G>T (p.Gly360Trp)	ATP13A5 (G360W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654357	NM_198505.4(ATP13A5):c.849C>T (p.Pro283=)	ATP13A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654356	NM_198505.4(ATP13A5):c.2970T>C (p.Ser990=)	ATP13A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616937	NM_198505.4(ATP13A5):c.2915C>T (p.Pro972Leu)	ATP13A5 (P972L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615722	NM_198505.4(ATP13A5):c.1825G>A (p.Val609Met)	ATP13A5 (V609M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613895	NM_198505.4(ATP13A5):c.482C>G (p.Ser161Cys)	ATP13A5 (S161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595994	NM_198505.4(ATP13A5):c.675A>C (p.Glu225Asp)	ATP13A5 (E225D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588838	NM_198505.4(ATP13A5):c.2964G>C (p.Gln988His)	ATP13A5 (Q988H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588069	NM_198505.4(ATP13A5):c.2335A>G (p.Thr779Ala)	ATP13A5, ATP13A5-AS1 (T779A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557190	NM_198505.4(ATP13A5):c.2242G>A (p.Asp748Asn)	ATP13A5, ATP13A5-AS1 (D748N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2555721	NM_198505.4(ATP13A5):c.3643T>C (p.Trp1215Arg)	ATP13A5, PLAAT1 (W1215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511995	NM_198505.4(ATP13A5):c.1003A>G (p.Lys335Glu)	ATP13A5 (K335E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489943	NM_198505.4(ATP13A5):c.2309C>G (p.Pro770Arg)	ATP13A5, ATP13A5-AS1 (P770R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488180	NM_198505.4(ATP13A5):c.1189G>A (p.Asp397Asn)	ATP13A5 (D397N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480891	NM_198505.4(ATP13A5):c.1273G>A (p.Val425Ile)	ATP13A5 (V425I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480432	NM_198505.4(ATP13A5):c.139C>G (p.Leu47Val)	ATP13A5 (L47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472466	NM_198505.4(ATP13A5):c.2500C>A (p.Leu834Ile)	ATP13A5, ATP13A5-AS1 (L834I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409480	NM_198505.4(ATP13A5):c.688A>G (p.Ile230Val)	ATP13A5 (I230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403976	NM_198505.4(ATP13A5):c.2737G>A (p.Gly913Ser)	ATP13A5 (G913S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403498	NM_198505.4(ATP13A5):c.3376T>C (p.Cys1126Arg)	ATP13A5, PLAAT1 (C1126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392176	NM_198505.4(ATP13A5):c.115G>C (p.Ala39Pro)	ATP13A5 (A39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390979	NM_198505.4(ATP13A5):c.1102G>A (p.Val368Ile)	ATP13A5 (V368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387525	NM_198505.4(ATP13A5):c.1451G>A (p.Cys484Tyr)	ATP13A5 (C484Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369998	NM_198505.4(ATP13A5):c.2086C>T (p.Arg696Cys)	ATP13A5 (R696C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353943	NM_198505.4(ATP13A5):c.2287G>C (p.Val763Leu)	ATP13A5, ATP13A5-AS1 (V763L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2337858	NM_198505.4(ATP13A5):c.2174C>T (p.Thr725Met)	ATP13A5, ATP13A5-AS1 (T725M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2337142	NM_198505.4(ATP13A5):c.95G>A (p.Arg32Gln)	ATP13A5 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309836	NM_198505.4(ATP13A5):c.743A>T (p.Gln248Leu)	ATP13A5 (Q248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298278	NM_198505.4(ATP13A5):c.2629C>A (p.Pro877Thr)	ATP13A5 (P877T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291866	NM_198505.4(ATP13A5):c.598G>C (p.Val200Leu)	ATP13A5 (V200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291865	NM_198505.4(ATP13A5):c.1327C>A (p.Pro443Thr)	ATP13A5 (P443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259050	NM_198505.4(ATP13A5):c.3248T>C (p.Leu1083Pro)	ATP13A5, PLAAT1 (L1083P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249698	NM_198505.4(ATP13A5):c.361G>A (p.Ala121Thr)	ATP13A5 (A121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247893	NM_198505.4(ATP13A5):c.1771G>T (p.Ala591Ser)	ATP13A5 (A591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245852	NM_198505.4(ATP13A5):c.3452T>G (p.Phe1151Cys)	ATP13A5, PLAAT1 (F1151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244617	NM_198505.4(ATP13A5):c.1447G>A (p.Val483Met)	ATP13A5 (V483M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240555	NM_198505.4(ATP13A5):c.3391G>A (p.Val1131Ile)	ATP13A5, PLAAT1 (V1131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236691	NM_198505.4(ATP13A5):c.766G>A (p.Val256Met)	ATP13A5 (V256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232226	NM_198505.4(ATP13A5):c.2636C>T (p.Thr879Ile)	ATP13A5 (T879I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221544	NM_198505.4(ATP13A5):c.1313T>A (p.Leu438His)	ATP13A5 (L438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1527068	GRCh37/hg19 3q29(chr3:192607378-194745252)	ATP13A3, ATP13A4 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 791964	NM_198505.4(ATP13A5):c.372G>A (p.Lys124=)	ATP13A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783316	NM_198505.4(ATP13A5):c.3653del (p.Leu1218fs)	ATP13A5, PLAAT1 (L1218fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 402400	NM_198505.4(ATP13A5):c.1063C>T (p.Gln355Ter)	ATP13A5 (Q355*)	Single nucleotide variant (nonsense)	not specified +1 more	GLikely benign
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 393824	GRCh37/hg19 3q28-29(chr3:192266490-193816606)x3	OPA1, PLAAT1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253860	GRCh37/hg19 3q28-29(chr3:191413759-193081037)x1	MB21D2, PLAAT1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic

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