ClinVar for MedGen (Select 1794140) - ClinVar - NCBI

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Items: 16

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25785491.	NM_006521.6(TFE3):c.593A>C (p.Gln198Pro) GRCh37: ChrX:48895909 GRCh38: ChrX:49038384	TFE3	Q198P, Q93P	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Uncertain significance (Jun 26, 2023)	criteria provided, single submitter
Select item 25055082.	NM_006521.6(TFE3):c.556C>A (p.Pro186Thr) GRCh37: ChrX:48895946 GRCh38: ChrX:49038421	TFE3	P186T, P81T	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Likely pathogenic (Jun 20, 2023)	criteria provided, single submitter
Select item 24442653.	NM_006521.6(TFE3):c.560C>A (p.Thr187Lys) GRCh37: ChrX:48895942 GRCh38: ChrX:49038417	TFE3	T187K, T82K	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 18040714.	NM_006521.6(TFE3):c.374_379del (p.123AQ[1]) GRCh37: ChrX:48896787-48896792 GRCh38: ChrX:49039262-49039267	TFE3		Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Likely pathogenic (May 4, 2021)	criteria provided, single submitter
Select item 17103615.	NM_006521.6(TFE3):c.556C>T (p.Pro186Ser) GRCh37: ChrX:48895946 GRCh38: ChrX:49038421	TFE3	P186S, P81S	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Likely pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 13332846.	NM_006521.6(TFE3):c.569_583del (p.His190_Ala194del) GRCh37: ChrX:48895919-48895933 GRCh38: ChrX:49038394-49038408	TFE3		Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 13332427.	NM_006521.6(TFE3):c.583_597dup (p.Arg195_Val199dup) GRCh37: ChrX:48895904-48895905 GRCh38: ChrX:49038379-49038380	TFE3		Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 13200278.	NM_006521.6(TFE3):c.569A>G (p.His190Arg) GRCh37: ChrX:48895933 GRCh38: ChrX:49038408	TFE3	H190R, H85R	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Likely pathogenic (Oct 25, 2021)	criteria provided, single submitter
Select item 13200269.	NM_006521.6(TFE3):c.559A>G (p.Thr187Ala) GRCh37: ChrX:48895943 GRCh38: ChrX:49038418	TFE3	T187A, T82A	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Pathogenic (Oct 25, 2021)	criteria provided, single submitter
Select item 130186310.	NM_006521.6(TFE3):c.780+1G>A GRCh37: ChrX:48895721 GRCh38: ChrX:49038196	TFE3		Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Pathogenic (Oct 27, 2021)	no assertion criteria provided
Select item 130186111.	NM_006521.6(TFE3):c.560C>G (p.Thr187Arg) GRCh37: ChrX:48895942 GRCh38: ChrX:49038417	TFE3	T187R, T82R	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Pathogenic (Oct 27, 2021)	no assertion criteria provided
Select item 130185812.	NM_006521.6(TFE3):c.602A>C (p.Gln201Pro) GRCh37: ChrX:48895900 GRCh38: ChrX:49038375	TFE3	Q201P, Q96P	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Pathogenic (Oct 27, 2021)	no assertion criteria provided
Select item 130185713.	NM_006521.6(TFE3):c.356A>C (p.Gln119Pro) GRCh37: ChrX:48896810 GRCh38: ChrX:49039285	TFE3	Q119P, Q14P	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	Pathogenic (Oct 27, 2021)	no assertion criteria provided
Select item 106479114.	NM_006521.6(TFE3):c.350G>A (p.Arg117Gln) GRCh37: ChrX:48896816 GRCh38: ChrX:49039291	TFE3	R117Q, R12Q	Neurodevelopmental disorder, not provided	Pathogenic (Apr 2, 2020)	criteria provided, multiple submitters, no conflicts
Select item 99285515.	NM_006521.6(TFE3):c.557C>T (p.Pro186Leu) GRCh37: ChrX:48895945 GRCh38: ChrX:49038420	TFE3	P186L, P81L	not provided	Likely pathogenic	criteria provided, single submitter
Select item 98531516.	NM_006521.6(TFE3):c.560C>T (p.Thr187Met) GRCh37: ChrX:48895942 GRCh38: ChrX:49038417	TFE3	T187M, T82M	Neurodevelopmental abnormality, Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, Inborn genetic diseases	Pathogenic/Likely pathogenic (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts