ClinVar for Gene (Select 6878) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173562	NM_139315.3(TAF6):c.557C>G (p.Thr186Ser)	TAF6 (T223S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3173561	NM_139315.3(TAF6):c.333G>C (p.Glu111Asp)	TAF6 (E148D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3173560	NM_139315.3(TAF6):c.151G>A (p.Ala51Thr)	TAF6 (A97T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
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 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 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 3146657	NM_152755.2(CNPY4):c.569C>T (p.Pro190Leu)	CNPY4, TAF6 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146656	NM_152755.2(CNPY4):c.142C>G (p.Leu48Val)	CNPY4, TAF6 (L48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3059325	NM_139315.3(TAF6):c.1710C>T (p.Pro570=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	TAF6-related condition	GLikely benign
Select item 3045550	NM_139315.3(TAF6):c.-41G>C	TAF6 (R24P +1 more)	Single nucleotide variant (missense variant +2 more)	TAF6-related condition	GLikely benign
Select item 3039809	NM_139315.3(TAF6):c.-31T>C	TAF6	Single nucleotide variant (synonymous variant +2 more)	TAF6-related condition	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 condition	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
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 2899137	NM_139315.3(TAF6):c.684C>T (p.Thr228=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889991	NM_139315.3(TAF6):c.304C>T (p.Arg102Trp)	TAF6 (R102W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2881372	NM_139315.3(TAF6):c.1158+18A>G	TAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2866025	NM_139315.3(TAF6):c.398-11C>T	TAF6	Single nucleotide variant (intron variant)	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 2712687	NM_139315.3(TAF6):c.1338C>T (p.Asp446=)	AP4M1, TAF6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2657738	NM_139315.3(TAF6):c.-59-118G>A	TAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657737	NM_139315.3(TAF6):c.-11_-8del	TAF6 (R34fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GBenign
Select item 2657736	NM_139315.3(TAF6):c.76A>T (p.Met26Leu)	TAF6 (M26L +2 more)	Single nucleotide variant (missense variant +1 more)	TAF6-related condition +1 more	GBenign/Likely benign
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 2657734	NM_139315.3(TAF6):c.1095C>T (p.Asp365=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2619080	NM_152755.2(CNPY4):c.287G>A (p.Arg96Gln)	CNPY4, TAF6 (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587966	NM_139315.3(TAF6):c.385G>A (p.Val129Ile)	TAF6 (V129I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2555432	NM_152755.2(CNPY4):c.566T>C (p.Leu189Pro)	CNPY4, TAF6 (L189P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536207	NM_152755.2(CNPY4):c.696C>A (p.Asp232Glu)	CNPY4, TAF6 (D232E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531425	NM_139315.3(TAF6):c.359C>T (p.Thr120Ile)	TAF6 (T110I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518179	NM_152755.2(CNPY4):c.187G>A (p.Glu63Lys)	CNPY4, TAF6 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515842	NM_152755.2(CNPY4):c.317G>A (p.Arg106His)	CNPY4, TAF6 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2470257	NM_152755.2(CNPY4):c.62C>T (p.Ala21Val)	CNPY4, LOC129998899 +1 more (A21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469968	NM_139315.3(TAF6):c.391C>G (p.Leu131Val)	TAF6 (L121V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	TRAPPC14, TRIM4 +79 more	Duplication	not provided	GUncertain significance
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 2396017	NM_152755.2(CNPY4):c.166G>A (p.Gly56Ser)	CNPY4, TAF6 (G56S)	Single nucleotide variant (missense variant)	not specified	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 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 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 2356213	NM_152755.2(CNPY4):c.-52A>G	CNPY4, LOC129998899 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353788	NM_152755.2(CNPY4):c.139G>C (p.Glu47Gln)	CNPY4, TAF6 (E47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2329244	NM_152755.2(CNPY4):c.692G>A (p.Gly231Glu)	CNPY4, TAF6 (G231E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2299473	NM_152755.2(CNPY4):c.241G>C (p.Val81Leu)	CNPY4, TAF6 (V81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296165	NM_152755.2(CNPY4):c.586T>A (p.Cys196Ser)	CNPY4, TAF6 (C196S)	Single nucleotide variant (missense variant)	not specified	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 2246163	NM_139315.3(TAF6):c.1898C>T (p.Ser633Leu)	AP4M1, TAF6 (S670L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2201183	NM_139315.3(TAF6):c.1620A>C (p.Val540=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	TAF6-related condition +1 more	GLikely benign
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 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 2125157	NM_139315.3(TAF6):c.1182C>G (p.Pro394=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2077761	NM_139315.3(TAF6):c.333G>A (p.Glu111=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2064923	NM_139315.3(TAF6):c.2031G>A (p.Pro677=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2064073	NM_139315.3(TAF6):c.107G>C (p.Cys36Ser)	TAF6 (C36S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2061252	NM_139315.3(TAF6):c.1707G>A (p.Ser569=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2033626	NM_139315.3(TAF6):c.1284+18C>T	TAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026593	NM_139315.3(TAF6):c.397+18C>T	TAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973651	NM_139315.3(TAF6):c.525C>T (p.Asp175=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1973201	NM_139315.3(TAF6):c.243+19C>T	TAF6	Single nucleotide variant (intron variant)	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 1971113	NM_139315.3(TAF6):c.1158+14G>A	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
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 1702770	NM_139315.3(TAF6):c.1949C>T (p.Ala650Val)	AP4M1, TAF6 (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 1620304	NM_139315.3(TAF6):c.1083+17T>G	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1572983	NM_139315.3(TAF6):c.438C>T (p.Pro146=)	TAF6	Single nucleotide variant (synonymous variant +1 more)	TAF6-related condition +1 more	GBenign
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GPathogenic
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	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 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 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 1297916	NM_139315.3(TAF6):c.-134G>C	TAF6	Single nucleotide variant (5 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 1287915	NM_139315.3(TAF6):c.1159-32C>T	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281811	NM_139315.3(TAF6):c.1083+159del	TAF6	Deletion (intron variant)	not provided	GBenign
Select item 1277824	NM_139315.3(TAF6):c.243+23_243+24insT	TAF6	Insertion (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 1262650	NM_139315.3(TAF6):c.243+29del	TAF6	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1262036	NM_139315.3(TAF6):c.900+37G>A	TAF6	Single nucleotide variant (intron variant)	not provided	GBenign

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