11540[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
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 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
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 2064923	NM_139315.3(TAF6):c.2031G>A (p.Pro677=)	TAF6, AP4M1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 781652	NM_004722.4(AP4M1):c.*387C>T	AP4M1, TAF6 (G717S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 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 2620878	NM_139315.3(TAF6):c.1918G>A (p.Gly640Ser)	AP4M1, TAF6 (G686S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 746487	NM_139315.3(TAF6):c.1917C>T (p.Ser639=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2657732	NM_139315.3(TAF6):c.1905G>A (p.Pro635=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 759833	NM_139315.3(TAF6):c.1899G>A (p.Ser633=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2246163	NM_139315.3(TAF6):c.1898C>T (p.Ser633Leu)	AP4M1, TAF6 (S670L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 2153357	NM_139315.3(TAF6):c.1806T>C (p.Ser602=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3173559	NM_139315.3(TAF6):c.1771G>A (p.Ala591Thr)	AP4M1, TAF6 (A591T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1329023	NM_139315.3(TAF6):c.1767_1770dup (p.Ala591fs)	AP4M1, TAF6 (A581fs +3 more)	Duplication (frameshift variant +2 more)	not specified	GUncertain significance
Select item 748241	NM_139315.3(TAF6):c.1770C>T (p.Thr590=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2657733	NM_139315.3(TAF6):c.1725C>T (p.Val575=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2721752	NM_139315.3(TAF6):c.1723G>A (p.Val575Ile)	AP4M1, TAF6 (V565I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 285346	NM_139315.3(TAF6):c.1722C>T (p.Thr574=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3059325	NM_139315.3(TAF6):c.1710C>T (p.Pro570=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2061252	NM_139315.3(TAF6):c.1707G>A (p.Ser569=)	TAF6, AP4M1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2394579	NM_139315.3(TAF6):c.1706C>T (p.Ser569Leu)	AP4M1, TAF6 (S569L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 2414747	NM_139315.3(TAF6):c.1676C>T (p.Ser559Leu)	AP4M1, TAF6 (S549L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 744994	NM_139315.3(TAF6):c.1671C>T (p.Ser557=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1971152	NM_139315.3(TAF6):c.1657-12C>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1329022	NM_139315.3(TAF6):c.1629_1632dup (p.Ser545fs)	AP4M1, TAF6 (S535fs +3 more)	Duplication (frameshift variant +2 more)	not specified	GUncertain significance
Select item 2201183	NM_139315.3(TAF6):c.1620A>C (p.Val540=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 810141	NM_139315.3(TAF6):c.1600C>T (p.Pro534Ser)	AP4M1, TAF6 (P524S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2304574	NM_139315.3(TAF6):c.1541C>G (p.Ala514Gly)	AP4M1, TAF6 (A551G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2370638	NM_139315.3(TAF6):c.1540G>C (p.Ala514Pro)	AP4M1, TAF6 (A514P +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 734129	NM_139315.3(TAF6):c.1539C>T (p.Ile513=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2484702	NM_139315.3(TAF6):c.1507A>G (p.Thr503Ala)	AP4M1, TAF6 (T493A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3173557	NM_139315.3(TAF6):c.1496C>T (p.Pro499Leu)	AP4M1, TAF6 (P536L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3173556	NM_139315.3(TAF6):c.1481C>T (p.Ser494Leu)	AP4M1, TAF6 (S494L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3324279	NM_139315.3(TAF6):c.1465C>G (p.Pro489Ala)	AP4M1, TAF6 (P535A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 742032	NM_139315.3(TAF6):c.1459-5C>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2130371	NM_139315.3(TAF6):c.1459-19T>C	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3032327	NM_139315.3(TAF6):c.1458+10C>T	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +1 more)	TAF6-related disorder	GLikely benign
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 786742	NM_139315.3(TAF6):c.1396G>T (p.Ala466Ser)	AP4M1, TAF6 (A503S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
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 3324280	NM_139315.3(TAF6):c.1346G>A (p.Arg449Gln)	AP4M1, TAF6 (R486Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 753624	NM_139315.3(TAF6):c.1344T>C (p.Tyr448=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3239236	NM_139315.3(TAF6):c.1339G>C (p.Ala447Pro)	AP4M1, TAF6 (A437P +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2394671	NM_139315.3(TAF6):c.1339G>A (p.Ala447Thr)	AP4M1, TAF6 (A484T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2712687	NM_139315.3(TAF6):c.1338C>T (p.Asp446=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 744578	NM_139315.3(TAF6):c.1329C>T (p.Asp443=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2329436	NM_139315.3(TAF6):c.1303C>G (p.Leu435Val)	AP4M1, TAF6 (L425V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 780700	NM_139315.3(TAF6):c.1302T>C (p.Val434=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 2033626	NM_139315.3(TAF6):c.1284+18C>T	TAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075998	NM_139315.3(TAF6):c.1274G>C (p.Ser425Thr)	TAF6 (S425T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3173555	NM_139315.3(TAF6):c.1272G>T (p.Gln424His)	TAF6 (Q424H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2880568	NM_139315.3(TAF6):c.1258G>A (p.Ala420Thr)	TAF6 (A466T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125157	NM_139315.3(TAF6):c.1182C>G (p.Pro394=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2881372	NM_139315.3(TAF6):c.1158+18A>G	TAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971113	NM_139315.3(TAF6):c.1158+14G>A	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2308575	NM_139315.3(TAF6):c.1157A>G (p.Asp386Gly)	TAF6 (D376G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2963213	NM_139315.3(TAF6):c.1113G>A (p.Thr371=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657734	NM_139315.3(TAF6):c.1095C>T (p.Asp365=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1620304	NM_139315.3(TAF6):c.1083+17T>G	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2076932	NM_139315.3(TAF6):c.1074C>T (p.Thr358=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 740650	NM_139315.3(TAF6):c.969G>A (p.Val323=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 985272	NM_139315.3(TAF6):c.958C>T (p.Arg320Ter)	TAF6 (R310* +3 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 764535	NM_139315.3(TAF6):c.912G>A (p.Leu304=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2657735	NM_139315.3(TAF6):c.846G>A (p.Leu282=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 755070	NM_139315.3(TAF6):c.837C>T (p.Leu279=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 761559	NM_139315.3(TAF6):c.810C>T (p.Asn270=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 761233	NM_139315.3(TAF6):c.792G>A (p.Ser264=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2511200	NM_139315.3(TAF6):c.790T>G (p.Ser264Ala)	TAF6 (S254A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 489277	NM_139315.3(TAF6):c.721-1G>A	TAF6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2082970	NM_139315.3(TAF6):c.693C>T (p.Cys231=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899137	NM_139315.3(TAF6):c.684C>T (p.Thr228=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2250731	NM_139315.3(TAF6):c.618G>T (p.Leu206Phe)	TAF6 (L196F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 728114	NM_139315.3(TAF6):c.610G>A (p.Ala204Thr)	TAF6 (A204T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3017223	NM_139315.3(TAF6):c.586_587delinsGC (p.Lys196Ala)	TAF6 (K186A +3 more)	Indel (missense variant +1 more)	not provided	GUncertain significance

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