ClinVar for MedGen (Select 1841272) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242534	NM_003185.4(TAF4):c.308A>G (p.Gln103Arg)	TAF4 (Q103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242349	NM_003185.4(TAF4):c.2664del (p.Lys888fs)	TAF4 (K888fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 73	GPathogenic
Select item 3242348	NM_003185.4(TAF4):c.2453dup (p.Asn818fs)	TAF4 (N818fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal dominant 73	GPathogenic
Select item 3242347	NM_003185.4(TAF4):c.2185C>T (p.Gln729Ter)	TAF4 (Q729*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 73	GPathogenic
Select item 3242346	NM_003185.4(TAF4):c.1348C>T (p.Gln450Ter)	TAF4 (Q450*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 73	GPathogenic
Select item 3242345	NM_003185.4(TAF4):c.2845C>T (p.Gln949Ter)	TAF4 (Q949*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 73	GPathogenic
Select item 3236097	NM_003185.4(TAF4):c.213_268del (p.Gly72fs)	TAF4 (G72fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 73	GLikely pathogenic
Select item 3235955	NM_003185.4(TAF4):c.3052_3053del (p.Arg1018fs)	TAF4 (R1018fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal dominant 73	GUncertain significance

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