ClinVar for Gene (Select 2258) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 217

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375506	NM_001139498.2(FGF13):c.50-148734_50-148730delinsGCTGA	FGF13	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 3372581	NM_004114.5(FGF13):c.146dup (p.Lys50fs)	FGF13 (K50fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3367325	NM_004114.5(FGF13):c.189G>C (p.Glu63Asp)	FGF13 (E10D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3363779	NM_001139498.2(FGF13):c.50-148602G>A	FGF13 (E38K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362062	NM_001139498.2(FGF13):c.50-148652C>A	FGF13 (A21D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3352576	NM_004114.5(FGF13):c.279A>G (p.Lys93=)	FGF13	Single nucleotide variant (synonymous variant)	FGF13-related disorder	GLikely benign
Select item 3341477	NM_004114.5(FGF13):c.589A>G (p.Lys197Glu)	FGF13 (K144E +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 90	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 3148933	GRCh37/hg19 Xq27.1(chrX:138008382-139412040)x3	ATP11C, CXorf66 +3 more	Copy number gain	not provided	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 3094697	NM_004114.5(FGF13):c.592C>T (p.Pro198Ser)	FGF13 (P198S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094696	NM_004114.5(FGF13):c.256G>A (p.Asp86Asn)	FGF13 (D67N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062561	GRCh37/hg19 Xq26.3-27.3(chrX:137551658-145685497)	ATP11C, CDR1 +21 more	Copy number loss	not specified	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 3025497	NM_033642.3(FGF13):c.23A>G (p.Tyr8Cys)	FGF13 (Y8C)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2673261	NM_001139498.2(FGF13):c.50-148698T>A	FGF13 (S35T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2664209	NM_004114.5(FGF13):c.127T>G (p.Leu43Val)	FGF13 (L43V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 90	GUncertain significance
Select item 2661530	NM_004114.5(FGF13):c.589A>C (p.Lys197Gln)	FGF13 (K144Q +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2637555	NM_004114.5(FGF13):c.-146508G>A	FGF13	Single nucleotide variant (genic upstream transcript variant +2 more)	not specified	GUncertain significance
Select item 2579972	NM_001139498.2(FGF13):c.50-148733dup	FGF13 (G24fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2571381	NM_004114.5(FGF13):c.702C>T (p.Asn234=)	FGF13	Single nucleotide variant (synonymous variant)	not provided	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 2446541	NM_004114.5(FGF13):c.5C>A (p.Ala2Glu)	FGF13 (A2E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443855	NM_001139498.2(FGF13):c.-32C>G	FGF13	Single nucleotide variant (5 prime UTR variant)	Intellectual developmental disorder, X-linked 110	GPathogenic
Select item 2442774	NM_004114.5(FGF13):c.289A>G (p.Ser97Gly)	FGF13 (S107G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441792	NM_001139500.2(FGF13):c.137C>T (p.Ser46Phe)	FGF13 (S17F +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 90	GUncertain significance
Select item 2441419	NM_004114.5(FGF13):c.527A>G (p.Glu176Gly)	FGF13 (E123G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430613	NM_004114.5(FGF13):c.293C>T (p.Thr98Ile)	FGF13 (T108I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430413	NM_004114.5(FGF13):c.101G>C (p.Gly34Ala)	FGF13 (G34A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1809807	NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)	FGF13 (A2G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 90	GLikely pathogenic
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1808329	GRCh37/hg19 Xq26.3(chrX:137326858-137716052)x2	FGF13	Copy number gain	not provided	GUncertain significance
Select item 1804314	NM_004114.5(FGF13):c.694G>A (p.Val232Met)	FGF13 (V179M +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1804273	NM_004114.5(FGF13):c.720C>A (p.Ser240Arg)	FGF13 (S187R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708476	NM_004114.5(FGF13):c.23C>A (p.Ser8Ter)	FGF13 (S8*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 90	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 1703155	NM_004114.5(FGF13):c.*9200C>T	FGF13	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1700758	NM_004114.5(FGF13):c.385G>A (p.Gly129Arg)	FGF13 (G110R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526858	GRCh37/hg19 Xq27.1(chrX:138222220-139000317)	ATP11C, F9 +2 more	Copy number gain	not specified	GUncertain significance
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 1184442	NM_004114.5(FGF13):c.14T>G (p.Ile5Ser)	FGF13 (I5S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 90	GLikely pathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1064817	NM_004114.5(FGF13):c.32G>A (p.Arg11His)	FGF13 (R11H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 997409	NM_004114.5(FGF13):c.32G>C (p.Arg11Pro)	FGF13 (R11P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 90	GPathogenic
Select item 997408	NM_004114.5(FGF13):c.41G>C (p.Arg14Thr)	FGF13 (R14T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 997407	NM_004114.5(FGF13):c.31C>T (p.Arg11Cys)	FGF13 (R11C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 90	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 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 816395	GRCh37/hg19 Xq26.3-27.1(chrX:137939066-138117176)x0	FGF13	Copy number loss	not provided	GUncertain significance
Select item 816394	GRCh37/hg19 Xq26.3-27.1(chrX:137457338-138276345)x1	FGF13	Copy number loss	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 758760	NM_004114.5(FGF13):c.159C>A (p.Gly53=)	FGF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741299	NM_004114.5(FGF13):c.688T>C (p.Ser230Pro)	FGF13 (S177P +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710910	NM_004114.5(FGF13):c.693C>T (p.Gly231=)	FGF13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688866	GRCh37/hg19 Xq26.3(chrX:137649748-137735864)x0	FGF13	Copy number loss	not provided	GUncertain significance
Select item 688458	GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2	ATP11C, CDR1 +31 more	Copy number gain	not provided	GPathogenic
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 564906	GRCh37/hg19 Xq27.1(chrX:138126026-138891563)x2	FGF13, F9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564905	GRCh37/hg19 Xq26.3-27.1(chrX:136399075-139504489)x1	ZIC3, MCF2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564891	GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	CT45A3, UTP14A +79 more	Copy number loss	not provided	GPathogenic
Select item 564888	GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	ACTRT1, ADGRG4 +122 more	Copy number gain	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	LRCH2, LUZP4 +277 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	NAA10, NALF2 +509 more	Copy number gain	See cases	GPathogenic
Select item 442965	GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	VGLL1, VMA21 +174 more	Copy number gain	See cases	GPathogenic
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	See cases	GPathogenic
Select item 442821	GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	ACSL4, ACTRT1 +303 more	Copy number gain	See cases	GUncertain significance
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +384 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 3