ClinVar for Gene (Select 84239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3131432	NM_032279.4(ATP13A4):c.968C>T (p.Thr323Ile)	ATP13A4 (T323I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131431	NM_032279.4(ATP13A4):c.860T>C (p.Ile287Thr)	ATP13A4 (I287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131430	NM_032279.4(ATP13A4):c.3466A>G (p.Arg1156Gly)	ATP13A4 (R1156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131429	NM_032279.4(ATP13A4):c.3326C>T (p.Ala1109Val)	ATP13A4 (A1109V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131428	NM_032279.4(ATP13A4):c.3290G>A (p.Arg1097His)	ATP13A4 (R1097H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131427	NM_032279.4(ATP13A4):c.3289C>T (p.Arg1097Cys)	ATP13A4 (R1097C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131426	NM_032279.4(ATP13A4):c.3223G>C (p.Val1075Leu)	ATP13A4 (V1075L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131425	NM_032279.4(ATP13A4):c.2963C>T (p.Ala988Val)	ATP13A4 (A988V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131424	NM_032279.4(ATP13A4):c.2894G>A (p.Arg965Gln)	ATP13A4 (R965Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131423	NM_032279.4(ATP13A4):c.2846A>G (p.Asn949Ser)	ATP13A4 (N949S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131421	NM_032279.4(ATP13A4):c.2594T>C (p.Leu865Ser)	ATP13A4 (L865S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131420	NM_032279.4(ATP13A4):c.2553T>G (p.Asn851Lys)	ATP13A4 (N851K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131419	NM_032279.4(ATP13A4):c.2266A>G (p.Ile756Val)	ATP13A4 (I756V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131418	NM_032279.4(ATP13A4):c.2115G>T (p.Glu705Asp)	ATP13A4 (E705D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131416	NM_032279.4(ATP13A4):c.1952C>T (p.Thr651Met)	ATP13A4 (T651M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131415	NM_032279.4(ATP13A4):c.1919C>T (p.Pro640Leu)	ATP13A4 (P640L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131414	NM_032279.4(ATP13A4):c.1916T>G (p.Val639Gly)	ATP13A4 (V639G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131413	NM_032279.4(ATP13A4):c.1412C>T (p.Pro471Leu)	ATP13A4 (P471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131412	NM_032279.4(ATP13A4):c.1393G>C (p.Gly465Arg)	ATP13A4 (G465R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131411	NM_032279.4(ATP13A4):c.1370C>T (p.Ala457Val)	ATP13A4 (A457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131410	NM_032279.4(ATP13A4):c.1369G>A (p.Ala457Thr)	ATP13A4 (A457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131409	NM_032279.4(ATP13A4):c.1322C>T (p.Ala441Val)	ATP13A4 (A441V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131408	NM_032279.4(ATP13A4):c.1241T>C (p.Ile414Thr)	ATP13A4 (I414T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131407	NM_032279.4(ATP13A4):c.1200G>C (p.Arg400Ser)	ATP13A4 (R400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131406	NM_032279.4(ATP13A4):c.1199G>T (p.Arg400Met)	ATP13A4 (R400M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059121	NM_032279.4(ATP13A4):c.1915+7A>G	ATP13A4	Single nucleotide variant (intron variant)	ATP13A4-related condition	GBenign
Select item 3057822	NM_032279.4(ATP13A4):c.2247C>T (p.Thr749=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related condition	GLikely benign
Select item 3056909	NM_032279.4(ATP13A4):c.2119A>G (p.Ile707Val)	ATP13A4 (I707V)	Single nucleotide variant (missense variant)	ATP13A4-related condition	GBenign
Select item 3053520	NM_032279.4(ATP13A4):c.27C>T (p.His9=)	ATP13A4, ATP13A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP13A4-related condition	GLikely benign
Select item 3053342	NM_032279.4(ATP13A4):c.687C>T (p.Ile229=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related condition	GLikely benign
Select item 3052302	NM_032279.4(ATP13A4):c.1030C>T (p.Arg344Trp)	ATP13A4 (R344W)	Single nucleotide variant (missense variant)	ATP13A4-related condition	GLikely benign
Select item 3051923	NM_032279.4(ATP13A4):c.2895G>T (p.Arg965=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related condition	GLikely benign
Select item 3047558	NM_032279.4(ATP13A4):c.2111A>C (p.Glu704Ala)	ATP13A4 (E704A)	Single nucleotide variant (missense variant)	ATP13A4-related condition	GLikely benign
Select item 3043527	NM_032279.4(ATP13A4):c.840G>A (p.Leu280=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related condition	GLikely benign
Select item 3043489	NM_032279.4(ATP13A4):c.2083T>C (p.Leu695=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related condition	GLikely benign
Select item 3039081	NM_032279.4(ATP13A4):c.1974A>T (p.Ile658=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related condition	GLikely benign
Select item 3035372	NM_032279.4(ATP13A4):c.1323G>A (p.Ala441=)	ATP13A4	Single nucleotide variant (synonymous variant)	ATP13A4-related condition	GLikely benign
Select item 2688638	NM_032279.4(ATP13A4):c.490C>T (p.Gln164Ter)	ATP13A4 (Q164*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654358	NM_032279.4(ATP13A4):c.2319C>T (p.Asp773=)	ATP13A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620213	NM_032279.4(ATP13A4):c.665A>G (p.Tyr222Cys)	ATP13A4 (Y222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618837	NM_032279.4(ATP13A4):c.2344G>A (p.Val782Ile)	ATP13A4 (V782I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612526	NM_032279.4(ATP13A4):c.1731G>C (p.Met577Ile)	ATP13A4 (M577I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611485	NM_032279.4(ATP13A4):c.574A>C (p.Thr192Pro)	ATP13A4 (T192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593844	NM_032279.4(ATP13A4):c.86G>T (p.Gly29Val)	ATP13A4 (G29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549376	NM_032279.4(ATP13A4):c.71G>A (p.Gly24Asp)	ATP13A4 (G24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544526	NM_032279.4(ATP13A4):c.2725C>G (p.Leu909Val)	ATP13A4 (L909V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535190	NM_032279.4(ATP13A4):c.1590G>A (p.Met530Ile)	ATP13A4 (M530I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514983	NM_032279.4(ATP13A4):c.407T>C (p.Ile136Thr)	ATP13A4 (I136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493287	NM_032279.4(ATP13A4):c.1868T>C (p.Met623Thr)	ATP13A4 (M623T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480202	NM_032279.4(ATP13A4):c.233C>A (p.Thr78Lys)	ATP13A4 (T78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477103	NM_032279.4(ATP13A4):c.3244G>T (p.Val1082Leu)	ATP13A4 (V1082L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426186	NC_000003.11:g.(?_193207380)_(193385089_?)dup	ATP13A4, OPA1	Duplication	not provided	GUncertain significance
Select item 2412497	NM_032279.4(ATP13A4):c.2845A>C (p.Asn949His)	ATP13A4 (N949H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412238	NM_032279.4(ATP13A4):c.2096C>G (p.Thr699Arg)	ATP13A4 (T699R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411248	NM_032279.4(ATP13A4):c.172G>A (p.Val58Ile)	ATP13A4 (V58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408468	NM_032279.4(ATP13A4):c.1958A>G (p.Gln653Arg)	ATP13A4 (Q653R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404619	NM_032279.4(ATP13A4):c.3367C>T (p.Leu1123Phe)	ATP13A4 (L1123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401079	NM_032279.4(ATP13A4):c.3376G>A (p.Glu1126Lys)	ATP13A4 (E1126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394601	NM_032279.4(ATP13A4):c.3360T>G (p.Ile1120Met)	ATP13A4 (I1120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369945	NM_032279.4(ATP13A4):c.784A>G (p.Thr262Ala)	ATP13A4 (T262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368526	NM_032279.4(ATP13A4):c.2656G>A (p.Val886Ile)	ATP13A4 (V886I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365142	NM_032279.4(ATP13A4):c.622A>G (p.Ile208Val)	ATP13A4 (I208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357076	NM_032279.4(ATP13A4):c.112G>A (p.Gly38Arg)	ATP13A4 (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356790	NM_032279.4(ATP13A4):c.28G>A (p.Ala10Thr)	ATP13A4, ATP13A4-AS1 (A10T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2353142	NM_032279.4(ATP13A4):c.3106T>C (p.Phe1036Leu)	ATP13A4 (F1036L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350183	NM_032279.4(ATP13A4):c.235G>A (p.Asp79Asn)	ATP13A4 (D79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348074	NM_032279.4(ATP13A4):c.3055A>G (p.Met1019Val)	ATP13A4 (M1019V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346209	NM_032279.4(ATP13A4):c.2543A>G (p.Asp848Gly)	ATP13A4 (D848G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340616	NM_032279.4(ATP13A4):c.298G>T (p.Ala100Ser)	ATP13A4 (A100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329234	NM_032279.4(ATP13A4):c.2945G>A (p.Ser982Asn)	ATP13A4 (S982N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320929	NM_032279.4(ATP13A4):c.2092G>A (p.Glu698Lys)	ATP13A4 (E698K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312763	NM_032279.4(ATP13A4):c.932G>A (p.Gly311Asp)	ATP13A4 (G311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287426	NM_032279.4(ATP13A4):c.266T>C (p.Val89Ala)	ATP13A4 (V89A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286360	NM_032279.4(ATP13A4):c.398T>G (p.Val133Gly)	ATP13A4 (V133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283669	NM_032279.4(ATP13A4):c.1040T>C (p.Leu347Pro)	ATP13A4 (L347P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274999	NM_032279.4(ATP13A4):c.1775G>A (p.Gly592Glu)	ATP13A4 (G592E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270256	NM_032279.4(ATP13A4):c.2890G>A (p.Gly964Arg)	ATP13A4 (G964R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269838	NM_032279.4(ATP13A4):c.3524T>A (p.Met1175Lys)	ATP13A4 (M1175K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260429	NM_032279.4(ATP13A4):c.3089A>G (p.Asn1030Ser)	ATP13A4 (N1030S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248691	NM_032279.4(ATP13A4):c.1495T>C (p.Trp499Arg)	ATP13A4 (W499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239753	NM_032279.4(ATP13A4):c.1943A>C (p.Gln648Pro)	ATP13A4 (Q648P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238021	NM_032279.4(ATP13A4):c.1276C>A (p.Pro426Thr)	ATP13A4 (P426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237253	NM_032279.4(ATP13A4):c.581T>C (p.Ile194Thr)	ATP13A4 (I194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235231	NM_032279.4(ATP13A4):c.1508C>G (p.Ser503Cys)	ATP13A4 (S503C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232115	NM_032279.4(ATP13A4):c.3485C>T (p.Pro1162Leu)	ATP13A4 (P1162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218237	NM_032279.4(ATP13A4):c.2698T>G (p.Ser900Ala)	ATP13A4 (S900A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210818	NM_032279.4(ATP13A4):c.12T>A (p.Phe4Leu)	ATP13A4, ATP13A4-AS1 (F4L)	Single nucleotide variant (non-coding transcript variant +1 more)	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 1229084	NM_032279.4(ATP13A4):c.543A>G (p.Ile181Met)	ATP13A4 (I181M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1219273	NC_000003.12:g.193593101C>T	ATP13A4, OPA1	Single nucleotide variant	not provided	GLikely benign
Select item 980660	GRCh37/hg19 3q29(chr3:193212765-193346333)x3	OPA1, ATP13A4	Copy number gain	not provided	GUncertain significance
Select item 979154	NM_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp)	ATP13A4 (E646D)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GBenign
Select item 788776	NM_032279.4(ATP13A4):c.182A>G (p.His61Arg)	ATP13A4 (H61R)	Single nucleotide variant (missense variant)	ATP13A4-related condition +1 more	GLikely benign

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