TAF13[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2320338	NM_005645.4(TAF13):c.236G>T (p.Gly79Val)	TAF13 (G79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299252	NM_005645.4(TAF13):c.204+1G>T	TAF13	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 60	GLikely pathogenic
Select item 3173402	NM_005645.4(TAF13):c.166A>G (p.Ile56Val)	TAF13 (I56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759161	NM_005645.4(TAF13):c.150T>C (p.Tyr50=)	TAF13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986182	NM_005645.4(TAF13):c.125G>A (p.Gly42Asp)	TAF13 (G42D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030003	NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys)	TAF13 (Y41C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 60	GUncertain significance
Select item 375726	NM_005645.4(TAF13):c.119T>A (p.Met40Lys)	TAF13 (M40K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 60	GPathogenic
Select item 375727	NM_005645.4(TAF13):c.92T>A (p.Leu31His)	TAF13 (L31H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 60	GPathogenic
Select item 3041189	NM_005645.4(TAF13):c.27+10C>G	TAF13	Single nucleotide variant (intron variant)	TAF13-related disorder	GLikely benign
Select item 3026376	NM_005645.4(TAF13):c.15A>G (p.Glu5=)	TAF13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2585673	NM_005645.4(TAF13):c.-2G>A	TAF13	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign