ClinVar for Gene (Select 7030) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368554	NM_006521.6(TFE3):c.35T>C (p.Val12Ala)	TFE3 (V12A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3367955	NM_006521.6(TFE3):c.127_128del (p.Leu43fs)	TFE3 (L43fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3365886	NM_006521.6(TFE3):c.890C>T (p.Pro297Leu)	TFE3 (P192L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365543	NM_006521.6(TFE3):c.1696C>A (p.Arg566Ser)	TFE3 (R461S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363473	NM_006521.6(TFE3):c.129G>C (p.Leu43Phe)	TFE3 (L43F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3363378	NM_006521.6(TFE3):c.1718A>G (p.Glu573Gly)	TFE3 (E468G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362341	NM_006521.6(TFE3):c.659C>T (p.Pro220Leu)	TFE3 (P115L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GPathogenic
Select item 3361197	NM_006521.6(TFE3):c.617C>T (p.Thr206Ile)	TFE3 (T101I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360705	NM_006521.6(TFE3):c.9T>A (p.His3Gln)	TFE3 (H3Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3348548	NM_006521.6(TFE3):c.1323A>G (p.Val441=)	TFE3	Single nucleotide variant (synonymous variant)	TFE3-related disorder	GBenign
Select item 3346129	NM_006521.6(TFE3):c.697G>C (p.Ala233Pro)	TFE3 (A128P +1 more)	Single nucleotide variant (missense variant)	TFE3-related disorder	GUncertain significance
Select item 3343508	NM_006521.6(TFE3):c.1108G>A (p.Gly370Ser)	TFE3 (G265S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340595	NM_006521.6(TFE3):c.338G>A (p.Arg113Lys)	TFE3 (R113K +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3338578	NM_006521.6(TFE3):c.572T>C (p.Leu191Pro)	TFE3 (L191P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GPathogenic
Select item 3338565	NM_006521.6(TFE3):c.515T>G (p.Val172Gly)	TFE3 (V172G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	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 3176516	NM_006521.6(TFE3):c.238A>T (p.Ile80Leu)	TFE3 (I80L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3176515	NM_006521.6(TFE3):c.1634G>A (p.Arg545Gln)	TFE3 (R440Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176514	NM_006521.6(TFE3):c.1580AGG[3] (p.Glu530del)	TFE3 (E530del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GBenign
Select item 3176513	NM_006521.6(TFE3):c.1451C>T (p.Ala484Val)	TFE3 (A379V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3176512	NM_006521.6(TFE3):c.1373G>A (p.Ser458Asn)	TFE3 (S353N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3045544	NM_006521.6(TFE3):c.392G>A (p.Arg131His)	TFE3 (R131H +1 more)	Single nucleotide variant (missense variant)	TFE3-related disorder	GUncertain significance
Select item 3032865	NM_006521.6(TFE3):c.1589A>T (p.Glu530Val)	TFE3 (E425V +1 more)	Single nucleotide variant (missense variant)	TFE3-related disorder	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2671717	NM_006521.6(TFE3):c.780+1_780+2dup	TFE3	Duplication (splice donor variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GUncertain significance
Select item 2663387	NM_006521.6(TFE3):c.1217C>A (p.Ser406Tyr)	TFE3 (S301Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660506	NM_006521.6(TFE3):c.414C>T (p.Ala138=)	TFE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660505	NM_006521.6(TFE3):c.427C>T (p.Pro143Ser)	TFE3 (P143S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660504	NM_006521.6(TFE3):c.474T>G (p.Ser158=)	TFE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660503	NM_006521.6(TFE3):c.886-406T>G	TFE3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660502	NM_006521.6(TFE3):c.886-46T>C	TFE3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660501	NM_006521.6(TFE3):c.886-45G>T	TFE3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660500	NM_006521.6(TFE3):c.1089C>T (p.Asn363=)	TFE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660499	NM_006521.6(TFE3):c.1362G>A (p.Ser454=)	TFE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660498	NM_006521.6(TFE3):c.1592G>A (p.Gly531Glu)	TFE3 (G426E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2636144	NM_006521.6(TFE3):c.931G>A (p.Val311Met)	TFE3 (V206M +1 more)	Single nucleotide variant (missense variant)	TFE3-related disorder	GUncertain significance
Select item 2634042	NM_006521.6(TFE3):c.985A>G (p.Ile329Val)	TFE3 (I224V +1 more)	Single nucleotide variant (missense variant)	TFE3-related disorder	GUncertain significance
Select item 2589029	NM_006521.6(TFE3):c.1439G>A (p.Gly480Glu)	TFE3 (G375E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2578549	NM_006521.6(TFE3):c.593A>C (p.Gln198Pro)	TFE3 (Q198P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GUncertain significance
Select item 2538312	NM_006521.6(TFE3):c.1715A>G (p.Glu572Gly)	TFE3 (E572G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531141	NM_006521.6(TFE3):c.836T>C (p.Met279Thr)	TFE3 (M174T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528748	NM_006521.6(TFE3):c.1442G>T (p.Gly481Val)	TFE3 (G376V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2525671	NM_006521.6(TFE3):c.1420G>A (p.Ala474Thr)	TFE3 (A369T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2505508	NM_006521.6(TFE3):c.556C>A (p.Pro186Thr)	TFE3 (P186T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GLikely pathogenic
Select item 2503335	NM_006521.6(TFE3):c.1004-10T>C	TFE3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2503205	NM_006521.6(TFE3):c.457T>C (p.Ser153Pro)	TFE3 (S153P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502513	NM_006521.6(TFE3):c.268G>A (p.Ala90Thr)	TFE3 (A90T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2475675	NM_006521.6(TFE3):c.113T>C (p.Leu38Pro)	TFE3 (L38P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2444265	NM_006521.6(TFE3):c.560C>A (p.Thr187Lys)	TFE3 (T187K +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	GAGE12E, GAGE12F +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCDC120, CCDC22 +60 more	Duplication	SLC35A2-congenital disorder of glycosylation +4 more	GUncertain significance
Select item 2372053	NM_006521.6(TFE3):c.562C>T (p.Arg188Cys)	TFE3 (R83C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368736	NM_006521.6(TFE3):c.1408G>A (p.Gly470Ser)	TFE3 (G365S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2279647	NM_006521.6(TFE3):c.662G>C (p.Gly221Ala)	TFE3 (G116A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274512	NM_006521.6(TFE3):c.496C>T (p.Arg166Cys)	TFE3 (R61C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235828	NM_006521.6(TFE3):c.665C>G (p.Pro222Arg)	TFE3 (P117R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230780	NM_006521.6(TFE3):c.1061-5C>G	TFE3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2228640	NM_006521.6(TFE3):c.1262G>A (p.Arg421His)	TFE3 (R316H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225583	NM_006521.6(TFE3):c.401G>A (p.Arg134Gln)	TFE3 (R134Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1804071	NM_006521.6(TFE3):c.374_379del (p.123AQ[1])	TFE3	Deletion (inframe_deletion)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GLikely pathogenic
Select item 1803345	NM_006521.6(TFE3):c.1445del (p.Gly482fs)	TFE3 (G377fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1711709	NM_006521.6(TFE3):c.554A>G (p.Asn185Ser)	TFE3 (N185S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1710361	NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)	TFE3 (P186S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GLikely pathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 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 1704039	NM_006521.6(TFE3):c.1354A>G (p.Thr452Ala)	TFE3 (T347A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 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 1702666	NM_006521.6(TFE3):c.349C>T (p.Arg117Trp)	TFE3 (R117W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1690488	NM_006521.6(TFE3):c.340G>A (p.Val114Ile)	TFE3 (V114I +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1685174	NM_006521.6(TFE3):c.1525C>A (p.His509Asn)	TFE3 (H404N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1410471	NM_006521.6(TFE3):c.1455G>T (p.Gln485His)	TFE3 (Q380H +1 more)	Single nucleotide variant (missense variant)	not provided	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 1333284	NM_006521.6(TFE3):c.569_583del (p.His190_Ala194del)	TFE3	Deletion (inframe_deletion)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GUncertain significance
Select item 1333242	NM_006521.6(TFE3):c.583_597dup (p.Arg195_Val199dup)	TFE3	Duplication (inframe_insertion)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GUncertain significance
Select item 1330578	NM_006521.6(TFE3):c.1694G>A (p.Arg565His)	TFE3 (R460H +1 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma, Xp11-associated	GUncertain significance
Select item 1327225	NM_006521.6(TFE3):c.1699A>C (p.Ser567Arg)	TFE3 (S462R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326840	NM_006521.6(TFE3):c.734A>G (p.Asn245Ser)	TFE3 (N140S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320027	NM_006521.6(TFE3):c.569A>G (p.His190Arg)	TFE3 (H190R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GLikely pathogenic
Select item 1320026	NM_006521.6(TFE3):c.559A>G (p.Thr187Ala)	TFE3 (T187A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GPathogenic
Select item 1318763	NM_006521.6(TFE3):c.570C>G (p.His190Gln)	TFE3 (H190Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318546	NM_006521.6(TFE3):c.593A>G (p.Gln198Arg)	TFE3 (Q198R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318462	NM_006521.6(TFE3):c.551A>G (p.Glu184Gly)	TFE3 (E184G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316898	NM_006521.6(TFE3):c.1130G>A (p.Ser377Asn)	TFE3 (S272N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301863	NM_006521.6(TFE3):c.780+1G>A	TFE3	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GPathogenic
Select item 1301861	NM_006521.6(TFE3):c.560C>G (p.Thr187Arg)	TFE3 (T187R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GPathogenic

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