ClinVar for Gene (Select 203547) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339331	NC_000023.10:g.(?_150565677)_(150577837_?)dup	VMA21	Duplication	not specified	GUncertain significance
Select item 3257679	NM_001017980.4(VMA21):c.-1C>T	VMA21	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3233543	NM_001017980.4(VMA21):c.-382C>T	VMA21 (R30C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3051434	NM_001017980.4(VMA21):c.154A>G (p.Ile52Val)	VMA21 (I107V +1 more)	Single nucleotide variant (missense variant)	VMA21-related disorder	GUncertain significance
Select item 3048775	NM_001363810.1(VMA21):c.172G>T (p.Glu58Ter)	VMA21 (E58*)	Single nucleotide variant (nonsense)	VMA21-related disorder	GLikely benign
Select item 3045664	NM_001363810.1(VMA21):c.194G>C (p.Gly65Ala)	VMA21 (G65A)	Single nucleotide variant (missense variant)	VMA21-related disorder +1 more	GBenign/Likely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TAF9B, ARMCX2 +488 more	Copy number gain	not provided	GPathogenic
Select item 2969364	NM_001017980.4(VMA21):c.258G>A (p.Val86=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 2917513	NM_001017980.4(VMA21):c.11C>A (p.Pro4Gln)	VMA21 (P4Q)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2902618	NM_001017980.4(VMA21):c.27G>C (p.Leu9=)	VMA21	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 2862881	NM_001017980.4(VMA21):c.57T>G (p.Asn19Lys)	VMA21 (N19K +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2817054	NM_001017980.4(VMA21):c.164-20del	VMA21	Deletion (intron variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 2805853	NM_001017980.4(VMA21):c.11C>T (p.Pro4Leu)	VMA21 (P4L)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2805126	NM_001017980.4(VMA21):c.164G>A (p.Gly55Asp)	VMA21 (G55D +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2796361	NM_001017980.4(VMA21):c.183T>C (p.Asn61=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 2778040	NM_001017980.4(VMA21):c.187G>T (p.Asp63Tyr)	VMA21 (D63Y +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2729321	NM_001017980.4(VMA21):c.9C>T (p.Arg3=)	VMA21	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 2685769	GRCh37/hg19 Xq28(chrX:150542033-151131340)x2	CNGA2, FATE1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 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 2661643	NM_001363810.1(VMA21):c.172G>C (p.Glu58Gln)	VMA21 (E58Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585382	NM_001363810.1(VMA21):c.59G>A (p.Cys20Tyr)	VMA21 (C20Y)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy +1 more	GConflicting classifications of pathogenicity
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2501095	NM_001017980.4(VMA21):c.-486C>T	VMA21	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2423473	NC_000023.10:g.(?_149613783)_(150573536_?)dup	CD99L2, GPR50 +6 more	Duplication	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2422668	NC_000023.10:g.(?_149613783)_(150573536_?)del	CD99L2, GPR50 +6 more	Deletion	X-linked myopathy with excessive autophagy +1 more	GConflicting classifications of pathogenicity
Select item 2166257	NM_001017980.4(VMA21):c.231T>C (p.His77=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 2088554	NM_001017980.4(VMA21):c.54-27A>G	VMA21	Single nucleotide variant (intron variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2061178	NM_001017980.4(VMA21):c.220G>T (p.Val74Phe)	VMA21 (V129F +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1940419	NM_001017980.4(VMA21):c.208A>G (p.Ile70Val)	VMA21 (I70V +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1932071	NM_001017980.4(VMA21):c.287G>A (p.Arg96His)	VMA21 (R151H +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1931323	NM_001017980.4(VMA21):c.11C>G (p.Pro4Arg)	VMA21 (P4R)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1928043	NM_001017980.4(VMA21):c.53+4G>T	VMA21	Single nucleotide variant (intron variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1901961	NM_001017980.4(VMA21):c.132A>G (p.Leu44=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1714261	NM_001017980.4(VMA21):c.172G>A (p.Gly58Arg)	VMA21 (G113R +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1709486	NM_001017980.4(VMA21):c.164-3T>A	VMA21	Single nucleotide variant (intron variant)	X-linked myopathy with excessive autophagy	GUncertain significance
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 1695322	NM_001017980.4(VMA21):c.194A>G (p.Tyr65Cys)	VMA21 (Y120C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1690444	NM_001363810.1(VMA21):c.51G>C (p.Glu17Asp)	VMA21 (E17D)	Single nucleotide variant (missense variant)	See cases	GLikely benign
Select item 1684210	NM_001363810.1(VMA21):c.19G>C (p.Gly7Arg)	VMA21 (G7R)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GBenign
Select item 1652595	NM_001017980.4(VMA21):c.228C>A (p.Val76=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1648059	NM_001017980.4(VMA21):c.164-11del	VMA21	Deletion (intron variant)	X-linked myopathy with excessive autophagy	GBenign
Select item 1637875	NM_001017980.4(VMA21):c.222C>T (p.Val74=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1624464	NM_001017980.4(VMA21):c.54-17T>C	VMA21	Single nucleotide variant (intron variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1601161	NM_001017980.4(VMA21):c.163+16T>G	VMA21	Single nucleotide variant (intron variant)	X-linked myopathy with excessive autophagy	GBenign
Select item 1585410	NM_001017980.4(VMA21):c.102A>G (p.Thr34=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GBenign
Select item 1584991	NM_001017980.4(VMA21):c.76A>G (p.Thr26Ala)	VMA21 (T26A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1579046	NM_001017980.4(VMA21):c.164-11dup	VMA21	Duplication (intron variant)	X-linked myopathy with excessive autophagy	GBenign
Select item 1567035	NM_001017980.4(VMA21):c.53+18C>T	VMA21	Single nucleotide variant (intron variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1563483	NM_001017980.4(VMA21):c.163+14C>T	VMA21	Single nucleotide variant (intron variant)	X-linked myopathy with excessive autophagy	GBenign
Select item 1562700	NM_001017980.4(VMA21):c.164-19G>T	VMA21	Single nucleotide variant (intron variant)	X-linked myopathy with excessive autophagy	GBenign
Select item 1543006	NM_001017980.4(VMA21):c.164-19_164-18del	VMA21	Deletion (intron variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1535199	NM_001017980.4(VMA21):c.300G>A (p.Gln100=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1472351	NM_001017980.4(VMA21):c.112A>G (p.Ile38Val)	VMA21 (I38V +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1440949	NM_001017980.4(VMA21):c.86C>T (p.Thr29Met)	VMA21 (T29M +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1426301	NM_001017980.4(VMA21):c.226G>A (p.Val76Ile)	VMA21 (V76I +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1383222	NM_001017980.4(VMA21):c.127G>T (p.Gly43Trp)	VMA21 (G98W +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	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 1283501	NM_001363810.1(VMA21):c.218+31G>T	LOC130068807, VMA21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240823	NM_001017980.4(VMA21):c.216_217insAATTA	VMA21	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1227338	NM_001017980.4(VMA21):c.53+90T>A	VMA21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1166210	NM_001017980.4(VMA21):c.252G>A (p.Val84=)	VMA21	Single nucleotide variant (synonymous variant)	VMA21-related disorder +1 more	GBenign/Likely benign
Select item 1164718	NM_001017980.4(VMA21):c.255T>C (p.Tyr85=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GBenign
Select item 1108096	NM_001017980.4(VMA21):c.291A>G (p.Glu97=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1106260	NM_001017980.4(VMA21):c.57T>C (p.Asn19=)	VMA21	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1096706	NM_001017980.4(VMA21):c.42T>C (p.Pro14=)	VMA21	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1088763	NM_001017980.4(VMA21):c.24G>A (p.Ala8=)	VMA21	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 1057126	NM_001017980.4(VMA21):c.175A>G (p.Met59Val)	VMA21 (M114V +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1056036	NM_001017980.4(VMA21):c.53+5C>T	VMA21	Single nucleotide variant (intron variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1032544	NM_001017980.4(VMA21):c.202G>T (p.Ala68Ser)	VMA21 (A68S +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 1003479	NM_001017980.4(VMA21):c.245T>G (p.Leu82Arg)	VMA21 (L137R +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy	GUncertain significance
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 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 956764	NM_001017980.4(VMA21):c.22G>A (p.Ala8Thr)	VMA21 (A8T)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 939455	NM_001017980.4(VMA21):c.223G>A (p.Ala75Thr)	VMA21 (A130T +1 more)	Single nucleotide variant (missense variant)	X-linked myopathy with excessive autophagy +1 more	GUncertain significance
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 831242	NC_000023.10:g.(?_149761067)_(150573540_?)dup	CD99L2, GPR50 +5 more	Duplication	Severe X-linked myotubular myopathy	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 772933	NM_001017980.4(VMA21):c.12G>A (p.Pro4=)	VMA21	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with excessive autophagy	GLikely benign
Select item 706886	NM_001017980.4(VMA21):c.144T>G (p.Thr48=)	VMA21	Single nucleotide variant (synonymous variant)	X-linked myopathy with excessive autophagy	GBenign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic

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