ClinVar for MedGen (Select 934669) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436936	NM_139315.3(TAF6):c.1412C>T (p.Ala471Val)	AP4M1, TAF6 (A461V +3 more)	Single nucleotide variant (missense variant +2 more)	Alazami-Yuan syndrome	GUncertain significance
Select item 1262650	NM_139315.3(TAF6):c.243+29del	TAF6	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1260154	NM_004722.4(AP4M1):c.*322A>G	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1248299	NM_139315.3(TAF6):c.398-12C>T	TAF6	Single nucleotide variant (intron variant)	Alazami-Yuan syndrome +1 more	GBenign
Select item 1242601	NM_139315.3(TAF6):c.1159-16T>C	TAF6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224658	NM_139315.3(TAF6):c.455-45dup	TAF6	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1034200	NM_139315.3(TAF6):c.1921A>G (p.Ser641Gly)	AP4M1, TAF6 (S631G +3 more)	Single nucleotide variant (missense variant +2 more)	Alazami-Yuan syndrome	GUncertain significance
Select item 1034199	NM_139315.3(TAF6):c.1876_1878del (p.Ser626del)	AP4M1, TAF6 (S663del +3 more)	Deletion (inframe_deletion +2 more)	Alazami-Yuan syndrome	GUncertain significance
Select item 1030002	NM_139315.3(TAF6):c.1769C>A (p.Thr590Asn)	AP4M1, TAF6 (T590N +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 730826	NM_139315.3(TAF6):c.1689A>G (p.Ser563=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	Alazami-Yuan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 712377	NM_139315.3(TAF6):c.1904C>T (p.Pro635Leu)	AP4M1, TAF6 (P672L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 560385	NM_016648.4(LARP7):c.1669-1_1671del	LARP7	Deletion (splice acceptor variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 180204	NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)	TAF6 (I108T +3 more)	Single nucleotide variant (missense variant +1 more)	Alazami-Yuan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 180203	NM_139315.3(TAF6):c.136C>T (p.Arg46Cys)	TAF6 (R46C +2 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 1 +1 more	GPathogenic