ClinVar for Gene (Select 55217) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366903	NC_000023.10:g.(?_154689387)_(154776950_?)dup	H2AB3, TMLHE	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3327264	NM_018196.4(TMLHE):c.938T>C (p.Ile313Thr)	TMLHE (I313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327263	NM_018196.4(TMLHE):c.730G>A (p.Asp244Asn)	TMLHE (D244N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327262	NM_018196.4(TMLHE):c.1157G>A (p.Arg386His)	TMLHE, TMLHE-AS1 (R386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239444	NM_018196.4(TMLHE):c.590C>A (p.Pro197His)	TMLHE (P197H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235933	GRCh38/hg38 Xq28(chrX:154895862-155336084)	BRCC3, CLIC2 +34 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3179800	NM_018196.4(TMLHE):c.840G>T (p.Gln280His)	TMLHE (Q280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179799	NM_018196.4(TMLHE):c.839A>G (p.Gln280Arg)	TMLHE (Q280R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179798	NM_018196.4(TMLHE):c.58G>A (p.Gly20Arg)	TMLHE (G20R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3062537	GRCh37/hg19 Xq28(chrX:154260005-154739500)	BRCC3, CLIC2 +10 more	Copy number gain	not specified	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 3051170	NM_018196.4(TMLHE):c.963C>T (p.Ile321=)	TMLHE	Single nucleotide variant (synonymous variant)	TMLHE-related disorder	GLikely benign
Select item 3047777	NM_018196.4(TMLHE):c.492G>A (p.Ser164=)	TMLHE	Single nucleotide variant (synonymous variant)	TMLHE-related disorder	GLikely benign
Select item 3038969	NM_018196.4(TMLHE):c.522C>T (p.Asn174=)	TMLHE	Single nucleotide variant (synonymous variant)	TMLHE-related disorder	GLikely benign
Select item 3029408	NM_018196.4(TMLHE):c.241C>T (p.Arg81Cys)	TMLHE (R81C)	Single nucleotide variant (missense variant)	TMLHE-related disorder	GUncertain significance
Select item 3024657	GRCh37/hg19 Xq28(chrX:154736559-155130251)x3	TMLHE	Copy number gain	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2690241	NM_018196.4(TMLHE):c.706A>T (p.Lys236Ter)	TMLHE (K236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2685781	GRCh37/hg19 Xq28(chrX:154568758-154930047)x2	F8A2, F8A3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
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 2661879	NM_018196.4(TMLHE):c.722G>A (p.Arg241Gln)	TMLHE (R241Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2630958	NM_018196.4(TMLHE):c.671C>T (p.Thr224Ile)	TMLHE (T224I)	Single nucleotide variant (missense variant)	TMLHE-related disorder	GUncertain significance
Select item 2617524	NM_018196.4(TMLHE):c.328C>A (p.Arg110Ser)	TMLHE (R110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581185	NC_000023.10:g.(154754294_154774756)_(154774939_154842452)del	TMLHE	Deletion	not specified	GUncertain significance
Select item 2540766	NM_018196.4(TMLHE):c.67T>C (p.Tyr23His)	TMLHE (Y23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536266	NM_018196.4(TMLHE):c.149C>A (p.Thr50Asn)	TMLHE (T50N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2483007	NM_018196.4(TMLHE):c.830C>T (p.Ala277Val)	TMLHE (A277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480649	NM_018196.4(TMLHE):c.1178G>A (p.Cys393Tyr)	TMLHE, TMLHE-AS1 (C393Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429077	NM_018196.4(TMLHE):c.693C>T (p.Asp231=)	TMLHE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	Heterotopia, periventricular, X-linked dominant +8 more	GPathogenic
Select item 2346924	NM_018196.4(TMLHE):c.560A>G (p.Tyr187Cys)	TMLHE (Y187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293621	NM_018196.4(TMLHE):c.1235A>G (p.Asn412Ser)	TMLHE, TMLHE-AS1 (N412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284026	NM_018196.4(TMLHE):c.629G>A (p.Ser210Asn)	TMLHE (S210N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281253	NM_018196.4(TMLHE):c.172G>A (p.Asp58Asn)	TMLHE (D58N)	Single nucleotide variant (missense variant)	not specified	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 1808573	GRCh37/hg19 Xq28(chrX:154697070-155233731)x0	TMLHE	Copy number loss	not provided	GLikely pathogenic
Select item 1808016	GRCh37/hg19 Xq28(chrX:154627675-154859657)x3	F8A3, H2AB3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807675	GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	ATP6AP1, BRCC3 +33 more	Copy number gain	not provided	GPathogenic
Select item 1807667	GRCh37/hg19 Xq28(chrX:154617565-155233731)x3	F8A3, H2AB3 +1 more	Copy number gain	not provided	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 1709697	NM_018196.4(TMLHE):c.523G>A (p.Glu175Lys)	TMLHE (E175K)	Single nucleotide variant (missense variant)	Epsilon-trimethyllysine hydroxylase deficiency	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 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic
Select item 1695898	GRCh37/hg19 Xq28(chrX:153529891-155114697)x3	SMIM9, TAFAZZIN +36 more	Copy number gain	not provided	Gnot provided
Select item 1691494	NM_018196.4(TMLHE):c.491C>T (p.Ser164Leu)	TMLHE (S164L)	Single nucleotide variant (missense variant)	Epsilon-trimethyllysine hydroxylase deficiency	GUncertain significance
Select item 1685178	NM_018196.4(TMLHE):c.158G>A (p.Trp53Ter)	TMLHE (W53*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1684654	Single allele	HCFC1-AS1, IDH3G +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1526883	GRCh37/hg19 Xq28(chrX:154762224-154803688)	TMLHE	Copy number loss	not specified	GUncertain significance
Select item 1342626	NM_018196.4(TMLHE):c.638+83_995+2127del	TMLHE	Deletion (splice acceptor variant +1 more)	Epsilon-trimethyllysine hydroxylase deficiency	GUncertain significance
Select item 1342389	NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del	BRCC3, CLIC2 +64 more	Deletion	not provided	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 1340161	GRCh37/hg19 Xq28(chrX:154543235-154739500)x2	CLIC2, F8A2 +4 more	Copy number gain	not provided	GLikely benign
Select item 1339785	GRCh37/hg19 Xq28(chrX:154773423-154797292)x0	TMLHE	Copy number loss	not provided	Gnot provided
Select item 1328194	NM_018196.4(TMLHE):c.248C>T (p.Ala83Val)	TMLHE (A83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1317993	NM_018196.4(TMLHE):c.1195C>T (p.Gln399Ter)	TMLHE, TMLHE-AS1 (Q399*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1299348	NM_018196.4(TMLHE):c.638+2del	TMLHE	Deletion (splice donor variant)	Epsilon-trimethyllysine hydroxylase deficiency	GLikely pathogenic
Select item 1299221	NM_018196.4(TMLHE):c.698C>T (p.Ala233Val)	TMLHE (A233V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297623	NM_018196.4(TMLHE):c.230G>A (p.Arg77Gln)	TMLHE (R77Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1013587	GRCh37/hg19 Xq28(chrX:153263517-155260560)x2	H2AB3, IKBKG +43 more	Copy number gain	Intellectual disability	GPathogenic
Select item 1012899	NM_018196.4(TMLHE):c.331C>T (p.Leu111=)	TMLHE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 982862	NM_018196.4(TMLHE):c.278G>A (p.Arg93His)	TMLHE (R93H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 980877	GRCh37/hg19 Xq28(chrX:154617601-154840698)x2	F8A3, H2AB3 +1 more	Copy number gain	not provided	GLikely benign
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979244	GRCh37/hg19 Xq28(chrX:154739499-154789638)x1	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 979242	GRCh37/hg19 Xq28(chrX:154752099-154827787)x0	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 929354	GRCh37/hg19 Xq28(chrX:154051891-155236747)x3	BRCC3, CLIC2 +14 more	Copy number gain	See cases	GPathogenic
Select item 928841	NM_018196.4(TMLHE):c.113C>T (p.Ala38Val)	TMLHE (A38V)	Single nucleotide variant (missense variant)	not specified	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 828134	NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys)	TMLHE (W2C)	Single nucleotide variant (missense variant)	Epsilon-trimethyllysine hydroxylase deficiency	GUncertain significance
Select item 816420	GRCh37/hg19 Xq28(chrX:154752979-154813224)x1	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 816419	GRCh37/hg19 Xq28(chrX:154739600-155000584)x3	TMLHE	Copy number gain	not provided	GLikely benign
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 807889	GRCh37/hg19 Xq28(chrX:154774757-154774937)x0	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 807879	NM_018196.4(TMLHE):c.85C>G (p.Pro29Ala)	TMLHE (P29A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761663	NM_018196.4(TMLHE):c.669C>T (p.Phe223=)	TMLHE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749213	NM_018196.4(TMLHE):c.798T>C (p.Gly266=)	TMLHE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720856	NM_018196.4(TMLHE):c.573C>T (p.Phe191=)	TMLHE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688303	GRCh37/hg19 Xq28(chrX:154731276-154919085)x2	TMLHE	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687829	GRCh37/hg19 Xq28(chrX:154542523-154742482)x1	CLIC2, F8A2 +4 more	Copy number loss	not provided	GUncertain significance

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