ClinVar for Gene (Select 79649) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3356997	NM_024597.4(MAP7D3):c.2167A>G (p.Arg723Gly)	MAP7D3 (R688G +2 more)	Single nucleotide variant (missense variant)	MAP7D3-related disorder	GUncertain significance
Select item 3293177	NM_024597.4(MAP7D3):c.365A>G (p.Gln122Arg)	MAP7D3 (Q104R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293176	NM_024597.4(MAP7D3):c.1514G>T (p.Cys505Phe)	MAP7D3 (C505F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293175	NM_024597.4(MAP7D3):c.1930G>A (p.Gly644Ser)	MAP7D3 (G644S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293174	NM_024597.4(MAP7D3):c.2161C>T (p.Arg721Trp)	MAP7D3 (R721W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293173	NM_024597.4(MAP7D3):c.1288G>A (p.Val430Met)	MAP7D3 (V412M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245190	NC_000023.10:g.(?_135288592)_(135741574_?)del	ADGRG4, BRS3 +5 more	Deletion	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3123201	NM_024597.4(MAP7D3):c.784C>T (p.Arg262Cys)	MAP7D3 (R244C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123200	NM_024597.4(MAP7D3):c.721G>A (p.Glu241Lys)	MAP7D3 (E223K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123199	NM_024597.4(MAP7D3):c.1868G>T (p.Arg623Leu)	MAP7D3 (R605L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123198	NM_024597.4(MAP7D3):c.175G>A (p.Asp59Asn)	MAP7D3 (D59N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123197	NM_024597.4(MAP7D3):c.1741A>T (p.Ile581Phe)	MAP7D3 (I546F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123196	NM_024597.4(MAP7D3):c.1474A>T (p.Thr492Ser)	MAP7D3 (T457S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123195	NM_024597.4(MAP7D3):c.115G>A (p.Val39Met)	MAP7D3 (V21M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123193	NM_024597.4(MAP7D3):c.1087G>A (p.Glu363Lys)	MAP7D3 (E345K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067811	GRCh37/hg19 Xq26.3(chrX:135301752-135301830)x0	MAP7D3	Copy number loss	not provided	GUncertain significance
Select item 3067810	GRCh37/hg19 Xq26.3(chrX:135301589-135301654)x0	MAP7D3	Copy number loss	not provided	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3060588	NM_024597.4(MAP7D3):c.170-3del	MAP7D3	Deletion (intron variant)	MAP7D3-related disorder	GBenign
Select item 3050155	NM_024597.4(MAP7D3):c.2160G>A (p.Lys720=)	MAP7D3	Single nucleotide variant (synonymous variant)	MAP7D3-related disorder	GLikely benign
Select item 3048706	NM_024597.4(MAP7D3):c.870T>C (p.Ser290=)	MAP7D3	Single nucleotide variant (synonymous variant)	MAP7D3-related disorder	GLikely benign
Select item 3045196	NM_024597.4(MAP7D3):c.2535G>A (p.Ala845=)	MAP7D3	Single nucleotide variant (synonymous variant)	MAP7D3-related disorder	GLikely benign
Select item 3043942	NM_024597.4(MAP7D3):c.1261A>G (p.Ser421Gly)	MAP7D3 (S386G +2 more)	Single nucleotide variant (missense variant)	MAP7D3-related disorder	GBenign
Select item 3039888	NM_024597.4(MAP7D3):c.1192C>G (p.Leu398Val)	MAP7D3 (L363V +2 more)	Single nucleotide variant (missense variant)	MAP7D3-related disorder	GBenign
Select item 3034577	NM_024597.4(MAP7D3):c.872C>T (p.Pro291Leu)	MAP7D3 (P256L +2 more)	Single nucleotide variant (missense variant)	MAP7D3-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2689399	NM_024597.4(MAP7D3):c.2213A>G (p.His738Arg)	MAP7D3 (H703R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685720	GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	ADGRG4, ARHGAP36 +46 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2661508	NM_024597.4(MAP7D3):c.346C>T (p.Arg116Ter)	MAP7D3 (R116* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2661507	NM_024597.4(MAP7D3):c.744C>T (p.Gly248=)	MAP7D3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661506	NM_024597.4(MAP7D3):c.745G>A (p.Val249Ile)	MAP7D3 (V214I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661505	NM_024597.4(MAP7D3):c.771C>A (p.Val257=)	MAP7D3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661504	NM_024597.4(MAP7D3):c.884T>G (p.Val295Gly)	MAP7D3 (V260G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661503	NM_024597.4(MAP7D3):c.1004C>G (p.Thr335Arg)	MAP7D3 (T300R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661502	NM_024597.4(MAP7D3):c.1586T>C (p.Ile529Thr)	MAP7D3 (I494T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661501	NM_024597.4(MAP7D3):c.1707T>C (p.Thr569=)	MAP7D3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600627	NM_024597.4(MAP7D3):c.1725G>T (p.Leu575Phe)	MAP7D3 (L575F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598467	NM_024597.4(MAP7D3):c.1238G>T (p.Ser413Ile)	MAP7D3 (S378I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591394	NM_024597.4(MAP7D3):c.515C>T (p.Ala172Val)	MAP7D3 (A172V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560935	NM_024597.4(MAP7D3):c.96G>C (p.Lys32Asn)	MAP7D3 (K14N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555601	NM_024597.4(MAP7D3):c.229G>A (p.Glu77Lys)	MAP7D3 (E59K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546167	NM_024597.4(MAP7D3):c.953G>A (p.Ser318Asn)	MAP7D3 (S283N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523460	NM_024597.4(MAP7D3):c.2330C>T (p.Pro777Leu)	MAP7D3 (P742L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2486855	NM_024597.4(MAP7D3):c.1027G>A (p.Val343Met)	MAP7D3 (V343M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472185	NM_024597.4(MAP7D3):c.1679A>T (p.Lys560Met)	MAP7D3 (K525M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471136	NM_024597.4(MAP7D3):c.2328G>A (p.Met776Ile)	MAP7D3 (M776I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408308	NM_024597.4(MAP7D3):c.418G>A (p.Glu140Lys)	MAP7D3 (E140K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397275	NM_024597.4(MAP7D3):c.968C>T (p.Pro323Leu)	MAP7D3 (P305L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386754	NM_024597.4(MAP7D3):c.785G>A (p.Arg262His)	MAP7D3 (R227H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371184	NM_024597.4(MAP7D3):c.1978G>C (p.Glu660Gln)	MAP7D3 (E625Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364648	NM_024597.4(MAP7D3):c.40C>T (p.Pro14Ser)	LOC130068748, MAP7D3 (P14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364647	NM_024597.4(MAP7D3):c.37A>T (p.Ser13Cys)	LOC130068748, MAP7D3 (S13C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364646	NM_024597.4(MAP7D3):c.35G>T (p.Gly12Val)	LOC130068748, MAP7D3 (G12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352417	NM_024597.4(MAP7D3):c.1460G>A (p.Arg487His)	MAP7D3 (R469H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343120	NM_024597.4(MAP7D3):c.125G>A (p.Arg42His)	MAP7D3 (R42H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310664	NM_024597.4(MAP7D3):c.987G>A (p.Met329Ile)	MAP7D3 (M311I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287929	NM_024597.4(MAP7D3):c.1018G>T (p.Val340Leu)	MAP7D3 (V322L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284480	NM_024597.4(MAP7D3):c.545G>T (p.Arg182Leu)	MAP7D3 (R164L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273857	NM_024597.4(MAP7D3):c.2016C>G (p.Asp672Glu)	MAP7D3 (D637E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273328	NM_024597.4(MAP7D3):c.985A>G (p.Met329Val)	MAP7D3 (M294V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266009	NM_024597.4(MAP7D3):c.1781T>G (p.Met594Arg)	MAP7D3 (M576R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251271	NM_024597.4(MAP7D3):c.1142G>A (p.Ser381Asn)	MAP7D3 (S346N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248920	NM_024597.4(MAP7D3):c.2221T>C (p.Tyr741His)	MAP7D3 (Y723H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229502	NM_024597.4(MAP7D3):c.1820G>A (p.Arg607His)	MAP7D3 (R589H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222572	NM_024597.4(MAP7D3):c.1878G>T (p.Met626Ile)	MAP7D3 (M608I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220636	NM_024597.4(MAP7D3):c.1523C>T (p.Pro508Leu)	MAP7D3 (P473L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206990	NM_024597.4(MAP7D3):c.443G>A (p.Arg148His)	MAP7D3 (R130H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809076	GRCh37/hg19 Xq26.3(chrX:135017562-135489217)x2	ADGRG4, FHL1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1458589	NC_000023.10:g.(?_135067662)_(136652229_?)del	ADGRG4, ARHGEF6 +10 more	Deletion	Heterotaxy, visceral, 1, X-linked +2 more	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 980872	GRCh37/hg19 Xq26.3(chrX:135190085-135599019)x2	ADGRG4, BRS3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 871948	NM_024597.4(MAP7D3):c.31_40del (p.Gly11fs)	LOC130068748, MAP7D3 (G11fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 790799	NM_024597.4(MAP7D3):c.765G>A (p.Gln255=)	MAP7D3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789502	NM_024597.4(MAP7D3):c.347G>A (p.Arg116Gln)	MAP7D3 (R116Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 783915	NM_024597.4(MAP7D3):c.1011A>G (p.Ser337=)	MAP7D3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 744843	NM_024597.4(MAP7D3):c.2194-5C>T	MAP7D3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741498	NM_024597.4(MAP7D3):c.429A>G (p.Thr143=)	MAP7D3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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