ClinVar for Gene (Select 9179) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 493

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3301096	NM_004722.4(AP4M1):c.533G>T (p.Arg178Leu)	AP4M1 (R185L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301089	NM_004722.4(AP4M1):c.975C>G (p.Ser325Arg)	AP4M1 (S332R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301043	NM_004722.4(AP4M1):c.848G>A (p.Arg283Gln)	AP4M1 (R283Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251060	NM_004722.4(AP4M1):c.1259A>G (p.Gln420Arg)	AP4M1 (Q420R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	MCM7, SPACDR +106 more	Deletion	not provided	GPathogenic
Select item 3245786	NC_000007.13:g.(?_99699407)_(99704283_?)del	AP4M1, MCM7	Deletion	Hereditary spastic paraplegia 50	GPathogenic
Select item 3245785	NC_000007.13:g.(?_99703861)_(99704170_?)del	AP4M1	Deletion	Hereditary spastic paraplegia 50	GPathogenic
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 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 3127560	NM_004722.4(AP4M1):c.472G>C (p.Glu158Gln)	AP4M1 (E165Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127559	NM_004722.4(AP4M1):c.382G>A (p.Glu128Lys)	AP4M1 (E135K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127558	NM_004722.4(AP4M1):c.304A>T (p.Ile102Phe)	AP4M1 (I102F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127557	NM_004722.4(AP4M1):c.186C>A (p.Ser62Arg)	AP4M1 (S69R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127556	NM_004722.4(AP4M1):c.179G>C (p.Arg60Thr)	AP4M1 (R60T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127555	NM_004722.4(AP4M1):c.1016G>A (p.Gly339Glu)	AP4M1 (G339E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124389	NM_005916.5(MCM7):c.19G>A (p.Ala7Thr)	AP4M1, MCM7 (A7T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3064764	NM_004722.4(AP4M1):c.809T>C (p.Leu270Pro)	AP4M1 (L270P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	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 3061696	NM_004722.4(AP4M1):c.1041G>C (p.Leu347=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder	GLikely benign
Select item 3059325	NM_139315.3(TAF6):c.1710C>T (p.Pro570=)	AP4M1, TAF6	Single nucleotide variant (synonymous variant +2 more)	TAF6-related disorder	GLikely benign
Select item 3053661	NM_004722.4(AP4M1):c.555T>C (p.Asn185=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder	GLikely benign
Select item 3033772	NM_004722.4(AP4M1):c.1113C>G (p.Gly371=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder	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 3017395	NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)	AP4M1 (Q135* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 50	GPathogenic
Select item 3016128	NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)	AP4M1 (D23fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 3009752	NM_004722.4(AP4M1):c.192C>G (p.Leu64=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2991850	NM_004722.4(AP4M1):c.58+14T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2976854	NM_004722.4(AP4M1):c.462+15A>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2957558	NM_004722.4(AP4M1):c.1138-17G>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2955044	NM_004722.4(AP4M1):c.576C>G (p.Val192=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2919511	NM_004722.4(AP4M1):c.352-18_352-17dup	AP4M1	Duplication (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2916494	NM_004722.4(AP4M1):c.1143C>T (p.Asp381=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2903504	NM_004722.4(AP4M1):c.728-17T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2890843	NM_004722.4(AP4M1):c.454G>A (p.Val152Ile)	AP4M1 (V152I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2887943	NM_004722.4(AP4M1):c.351+17C>T	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2885755	NM_004722.4(AP4M1):c.1167C>T (p.Pro389=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2873901	NM_004722.4(AP4M1):c.1188G>A (p.Ser396=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2873629	NM_004722.4(AP4M1):c.707T>C (p.Val236Ala)	AP4M1 (V243A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2873301	NM_004722.4(AP4M1):c.1203G>A (p.Gly401=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2860071	NM_004722.4(AP4M1):c.1308C>T (p.Pro436=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2802615	NM_004722.4(AP4M1):c.673+18A>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2791612	NM_004722.4(AP4M1):c.1287G>A (p.Arg429=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2790037	NM_004722.4(AP4M1):c.930-4C>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2756189	NM_004722.4(AP4M1):c.1025+20A>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2754453	NM_004722.4(AP4M1):c.1336A>G (p.Ser446Gly)	AP4M1 (S446G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2749126	NM_004722.4(AP4M1):c.861dup (p.Asp288fs)	AP4M1 (D295fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 2744001	NM_004722.4(AP4M1):c.254+14G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2742210	NM_004722.4(AP4M1):c.45C>G (p.Leu15=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2725244	NM_004722.4(AP4M1):c.238C>T (p.Leu80=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2724520	NM_004722.4(AP4M1):c.462+20_462+22del	AP4M1	Microsatellite (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2721752	NM_139315.3(TAF6):c.1723G>A (p.Val575Ile)	TAF6, AP4M1 (V565I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2719568	NM_004722.4(AP4M1):c.674-19_674-17del	AP4M1	Deletion (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2718198	NM_004722.4(AP4M1):c.606+18A>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
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 2712007	NM_004722.4(AP4M1):c.255-12G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2704598	NM_004722.4(AP4M1):c.381G>A (p.Thr127=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	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 2682986	NM_004722.4(AP4M1):c.504T>G (p.Ser168Arg)	AP4M1 (S168R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682288	NM_004722.4(AP4M1):c.568del (p.Asp190fs)	AP4M1 (D190fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50	GPathogenic
Select item 2674606	NM_004722.4(AP4M1):c.974+115dup	AP4M1	Duplication (intron variant)	Hereditary spastic paraplegia 50	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 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 2657731	NM_004722.4(AP4M1):c.657C>T (p.Phe219=)	AP4M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634768	NM_004722.4(AP4M1):c.57C>T (p.Asp19=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder	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 2583051	NM_004722.4(AP4M1):c.1179C>T (p.Leu393=)	AP4M1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580218	NM_004722.4(AP4M1):c.975-25_975-22del	AP4M1	Deletion (intron variant)	Hereditary spastic paraplegia 50	GUncertain significance
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 2541377	NM_004722.4(AP4M1):c.86T>C (p.Val29Ala)	AP4M1 (V29A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525237	NM_004722.4(AP4M1):c.428C>T (p.Pro143Leu)	AP4M1 (P143L +1 more)	Single nucleotide variant (missense variant)	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 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 2431426	NM_004722.4(AP4M1):c.1138-1G>A	AP4M1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2421746	NM_004722.4(AP4M1):c.1259A>T (p.Gln420Leu)	AP4M1 (Q420L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2418903	NM_004722.4(AP4M1):c.173A>G (p.His58Arg)	AP4M1 (H58R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2416808	NM_004722.4(AP4M1):c.147+12C>T	AP4M1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2416438	NM_004722.4(AP4M1):c.1084C>T (p.Arg362Cys)	AP4M1 (R362C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50	GUncertain significance
Select item 2415994	NM_004722.4(AP4M1):c.45C>T (p.Leu15=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50	GLikely benign
Select item 2415342	NM_004722.4(AP4M1):c.930-1G>C	AP4M1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 50	GLikely pathogenic
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 2413678	NM_004722.4(AP4M1):c.1354C>T (p.Arg452Trp)	AP4M1 (R452W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +1 more	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 2352295	NM_004722.4(AP4M1):c.742A>G (p.Ile248Val)	AP4M1 (I248V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338694	NM_004722.4(AP4M1):c.1145T>C (p.Val382Ala)	AP4M1 (V389A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2321143	NM_004722.4(AP4M1):c.19A>C (p.Ile7Leu)	AP4M1 (I7L)	Single nucleotide variant (missense variant)	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 2302619	NM_004722.4(AP4M1):c.678G>A (p.Met226Ile)	AP4M1 (M226I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299839	NM_004722.4(AP4M1):c.29C>T (p.Ser10Phe)	AP4M1 (S10F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294804	NM_005916.5(MCM7):c.27G>T (p.Glu9Asp)	AP4M1, MCM7 (E9D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2270254	NM_004722.4(AP4M1):c.1326C>G (p.His442Gln)	AP4M1 (H442Q +1 more)	Single nucleotide variant (missense variant)	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)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 5