"GeneDx"[submitter] AND "TAF6"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 1186443	NM_004722.4(AP4M1):c.*219G>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1248740	NM_004722.4(AP4M1):c.*291A>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 1702770	NM_004722.4(AP4M1):c.*449G>A	TAF6, AP4M1 (A640V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1697168	NM_139315.3(TAF6):c.1356C>A (p.Phe452Leu)	AP4M1, TAF6 (F442L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1252947	NM_139315.3(TAF6):c.1285-140T>C	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1288736	NM_139315.3(TAF6):c.1173G>A (p.Leu391=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1287915	NM_139315.3(TAF6):c.1159-32C>T	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265409	NM_139315.3(TAF6):c.1084-53G>A	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223774	NM_139315.3(TAF6):c.1083+144dup	TAF6	Duplication (intron variant)	not provided	GBenign
Select item 1281811	NM_139315.3(TAF6):c.1083+159del	TAF6	Deletion (intron variant)	not provided	GBenign
Select item 1702813	NM_139315.3(TAF6):c.988C>T (p.Arg330Ter)	TAF6 (R320* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 450536	NM_139315.3(TAF6):c.971A>T (p.Asp324Val)	TAF6 (D324V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1247203	NM_139315.3(TAF6):c.901-124G>A	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262036	NM_139315.3(TAF6):c.900+37G>A	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489277	NM_139315.3(TAF6):c.721-1G>A	TAF6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1309011	NM_139315.3(TAF6):c.644A>G (p.Glu215Gly)	TAF6 (E205G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 429479	NM_139315.3(TAF6):c.574+1G>A	TAF6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1224658	NM_139315.3(TAF6):c.455-45dup	TAF6	Duplication (intron variant)	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 1262650	NM_139315.3(TAF6):c.243+29del	TAF6	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1277824	NM_139315.3(TAF6):c.243+23_243+24insT	TAF6	Insertion (intron variant)	not provided	GBenign
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 1239617	NM_139315.3(TAF6):c.157-37G>A	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2064073	NM_139315.3(TAF6):c.107G>C (p.Cys36Ser)	TAF6 (C36S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1260087	NM_139315.3(TAF6):c.-37del	TAF6 (L26fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GBenign
Select item 1297916	NM_139315.3(TAF6):c.-134G>C	TAF6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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Items: 30