ClinVar for MedGen (Select 1794140) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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
Select item 1301858	NM_006521.6(TFE3):c.602A>C (p.Gln201Pro)	TFE3 (Q201P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GPathogenic
Select item 1301857	NM_006521.6(TFE3):c.356A>C (p.Gln119Pro)	TFE3 (Q119P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GPathogenic
Select item 1064791	NM_006521.6(TFE3):c.350G>A (p.Arg117Gln)	TFE3 (R117Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +2 more	GPathogenic
Select item 992855	NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)	TFE3 (P186L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 985315	NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	TFE3 (T187M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic