TRPS1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 361510	NM_014112.5(TRPS1):c.5300_5303del	TRPS1	Deletion (3 prime UTR variant)	Trichorhinophalangeal syndrome	GLikely benign
Select item 361517	NM_014112.5(TRPS1):c.*4845ATA[1]	TRPS1	Microsatellite (3 prime UTR variant)	Trichorhinophalangeal syndrome	GUncertain significance
Select item 361520	NM_014112.5(TRPS1):c.4754_4761dup	TRPS1	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 2658767	NM_014112.5(TRPS1):c.4747_4753T[7]GTTTTTTT[1]	TRPS1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 361524	NM_014112.5(TRPS1):c.*4741del	TRPS1	Deletion (3 prime UTR variant)	Trichorhinophalangeal syndrome	GUncertain significance
Select item 361534	NM_014112.5(TRPS1):c.*4593AAAGG[1]	TRPS1	Microsatellite (3 prime UTR variant)	Trichorhinophalangeal syndrome	GUncertain significance
Select item 369687	NM_014112.5(TRPS1):c.*3538del	TRPS1	Deletion (3 prime UTR variant)	Trichorhinophalangeal syndrome	GUncertain significance
Select item 361562	NM_014112.5(TRPS1):c.2752_2754del	TRPS1	Deletion (3 prime UTR variant)	Trichorhinophalangeal syndrome	GUncertain significance
Select item 361563	NM_014112.5(TRPS1):c.*2740del	TRPS1	Deletion (3 prime UTR variant)	Trichorhinophalangeal syndrome	GUncertain significance
Select item 361567	NM_014112.5(TRPS1):c.*2537del	TRPS1	Deletion (3 prime UTR variant)	Trichorhinophalangeal syndrome	GLikely benign
Select item 361581	NM_014112.5(TRPS1):c.1983_1984insG	TRPS1	Insertion (3 prime UTR variant)	Trichorhinophalangeal syndrome	GUncertain significance
Select item 361584	NM_014112.5(TRPS1):c.*1843del	TRPS1	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 361603	NM_014112.5(TRPS1):c.*338del	TRPS1	Deletion (3 prime UTR variant)	Trichorhinophalangeal syndrome	GUncertain significance
Select item 438469	NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del	TRPS1	Deletion	Trichorhinophalangeal dysplasia type I	Gnot provided
Select item 835952	NM_014112.5(TRPS1):c.3866dup (p.Asn1289fs)	TRPS1 (N1280fs +3 more)	Duplication (frameshift variant)	not provided +2 more	GUncertain significance
Select item 1468261	NM_014112.5(TRPS1):c.3855A>C (p.Gln1285His)	TRPS1 (Q1278H +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2930279	NM_014112.5(TRPS1):c.3852A>G (p.Ala1284=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2612335	NM_014112.5(TRPS1):c.3848A>G (p.Asn1283Ser)	TRPS1 (N1270S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1508294	NM_014112.5(TRPS1):c.3846C>A (p.Asn1282Lys)	TRPS1 (N1282K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2939276	NM_014112.5(TRPS1):c.3833G>C (p.Gly1278Ala)	TRPS1 (G1278A +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2951225	NM_014112.5(TRPS1):c.3798G>A (p.Thr1266=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 1347607	NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met)	TRPS1 (T1257M +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +2 more	GConflicting classifications of pathogenicity
Select item 420782	NM_014112.5(TRPS1):c.3784C>T (p.Gln1262Ter)	TRPS1 (Q1262* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1367966	NM_014112.5(TRPS1):c.3770A>G (p.Gln1257Arg)	TRPS1 (Q1248R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +2 more	GConflicting classifications of pathogenicity
Select item 2945974	NM_014112.5(TRPS1):c.3756C>T (p.Asp1252=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 1388561	NM_014112.5(TRPS1):c.3751G>A (p.Gly1251Ser)	TRPS1 (G1251S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 1995927	NM_014112.5(TRPS1):c.3749A>G (p.His1250Arg)	TRPS1 (H1237R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 1386658	NM_014112.5(TRPS1):c.3749A>C (p.His1250Pro)	TRPS1 (H1243P +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2682155	NM_014112.5(TRPS1):c.3737A>T (p.His1246Leu)	TRPS1 (H1233L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I	GLikely pathogenic
Select item 944504	NM_014112.5(TRPS1):c.3736C>T (p.His1246Tyr)	TRPS1 (H1233Y +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3183450	NM_014112.5(TRPS1):c.3727T>C (p.Tyr1243His)	TRPS1 (Y1230H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2941205	NM_014112.5(TRPS1):c.3725dup (p.Met1242fs)	TRPS1 (M1229fs +3 more)	Duplication (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2139558	NM_014112.5(TRPS1):c.3724A>T (p.Met1242Leu)	TRPS1 (M1233L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 1506027	NM_014112.5(TRPS1):c.3724A>C (p.Met1242Leu)	TRPS1 (M1229L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2040569	NM_014112.5(TRPS1):c.3717T>A (p.Asp1239Glu)	TRPS1 (D1226E +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 1302118	NM_014112.5(TRPS1):c.3716A>G (p.Asp1239Gly)	TRPS1 (D1226G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046400	NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)	TRPS1 (I1222V +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +2 more	GConflicting classifications of pathogenicity
Select item 1302205	NM_014112.5(TRPS1):c.3701G>A (p.Gly1234Asp)	TRPS1 (G1221D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635360	NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr)	TRPS1 (C1233Y +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely pathogenic
Select item 2218152	NM_014112.5(TRPS1):c.3667C>G (p.Gln1223Glu)	TRPS1 (Q1210E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2664809	NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)	TRPS1 (R1207fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I	GPathogenic
Select item 2934215	NM_014112.5(TRPS1):c.3637G>C (p.Val1213Leu)	TRPS1 (V1200L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3030176	NM_014112.5(TRPS1):c.3635T>G (p.Val1212Gly)	TRPS1 (V1199G +3 more)	Single nucleotide variant (missense variant)	TRPS1-related disorder	GUncertain significance
Select item 1450205	NM_014112.5(TRPS1):c.3629T>G (p.Leu1210Trp)	TRPS1 (L1201W +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2924064	NM_014112.5(TRPS1):c.3627C>G (p.Pro1209=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2043334	NM_014112.5(TRPS1):c.3621A>G (p.Glu1207=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 1467851	NM_014112.5(TRPS1):c.3620A>G (p.Glu1207Gly)	TRPS1 (E1200G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2930471	NM_014112.5(TRPS1):c.3616A>T (p.Asn1206Tyr)	TRPS1 (N1199Y +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 1968973	NM_014112.5(TRPS1):c.3612A>G (p.Val1204=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 749303	NM_014112.5(TRPS1):c.3594G>A (p.Thr1198=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 3329315	NM_014112.5(TRPS1):c.3593C>G (p.Thr1198Arg)	TRPS1 (T1185R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414624	NM_014112.5(TRPS1):c.3584A>G (p.Lys1195Arg)	TRPS1 (K1182R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2037200	NM_014112.5(TRPS1):c.3574G>A (p.Gly1192Ser)	TRPS1 (G1179S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 1591104	NM_014112.5(TRPS1):c.3573C>T (p.Asn1191=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 1615177	NM_014112.5(TRPS1):c.3561G>A (p.Gly1187=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2044938	NM_014112.5(TRPS1):c.3556_3559dup (p.Gly1187fs)	TRPS1 (G1174fs +3 more)	Duplication (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2924182	NM_014112.5(TRPS1):c.3540G>C (p.Ala1180=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 1584520	NM_014112.5(TRPS1):c.3540G>A (p.Ala1180=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 985732	NM_014112.5(TRPS1):c.3527dup (p.Leu1177fs)	TRPS1 (L1164fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1915737	NM_014112.5(TRPS1):c.3518A>G (p.Asn1173Ser)	TRPS1 (N1166S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 932127	NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly)	TRPS1 (D1159G +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 252681	NM_014112.5(TRPS1):c.3514G>C (p.Asp1172His)	TRPS1 (D1172H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2039642	NM_014112.5(TRPS1):c.3513A>G (p.Ser1171=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2114940	NM_014112.5(TRPS1):c.3505G>T (p.Val1169Phe)	TRPS1 (V1162F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2948347	NM_014112.5(TRPS1):c.3502G>T (p.Ala1168Ser)	TRPS1 (A1159S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2030643	NM_014112.5(TRPS1):c.3486G>A (p.Leu1162=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 1605460	NM_014112.5(TRPS1):c.3482A>G (p.Asn1161Ser)	TRPS1 (N1161S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GBenign
Select item 1602699	NM_014112.5(TRPS1):c.3477C>T (p.Thr1159=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 938680	NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter)	TRPS1 (Y1147* +3 more)	Duplication (nonsense)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2953664	NM_014112.5(TRPS1):c.3443C>G (p.Pro1148Arg)	TRPS1 (P1135R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2937756	NM_014112.5(TRPS1):c.3439C>T (p.Leu1147=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2942010	NM_014112.5(TRPS1):c.3429C>T (p.His1143=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 438474	NM_014112.5(TRPS1):c.3424del (p.Ser1142fs)	TRPS1 (S1135fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I	Gnot provided
Select item 2611254	NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu)	TRPS1 (P1125L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +2 more	GConflicting classifications of pathogenicity
Select item 2230762	NM_014112.5(TRPS1):c.3401T>C (p.Val1134Ala)	TRPS1 (V1127A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5574	NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs)	TRPS1 (V1121fs +3 more)	Insertion (frameshift variant)	Trichorhinophalangeal dysplasia type I	GPathogenic
Select item 1466845	NM_014112.5(TRPS1):c.3400G>A (p.Val1134Ile)	TRPS1 (V1125I +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 772467	NM_014112.5(TRPS1):c.3399C>T (p.Ser1133=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2950103	NM_014112.5(TRPS1):c.3390T>C (p.Tyr1130=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2947968	NM_014112.5(TRPS1):c.3374G>A (p.Arg1125Gln)	TRPS1 (R1112Q +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2259966	NM_014112.5(TRPS1):c.3365A>T (p.Asp1122Val)	TRPS1 (D1109V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2921694	NM_014112.5(TRPS1):c.3364G>A (p.Asp1122Asn)	TRPS1 (D1115N +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 1027825	NM_014112.5(TRPS1):c.3350T>C (p.Phe1117Ser)	TRPS1 (F1104S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I	GUncertain significance
Select item 1413451	NM_014112.5(TRPS1):c.3337G>A (p.Val1113Ile)	TRPS1 (V1100I +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2037347	NM_014112.5(TRPS1):c.3333C>G (p.Pro1111=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 286562	NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)	TRPS1 (L1110F +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +2 more	GConflicting classifications of pathogenicity
Select item 3329317	NM_014112.5(TRPS1):c.3323T>G (p.Phe1108Cys)	TRPS1 (F1099C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 282869	NM_014112.5(TRPS1):c.3319del (p.Leu1107fs)	TRPS1 (L1100fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2053780	NM_014112.5(TRPS1):c.3317C>A (p.Pro1106Gln)	TRPS1 (P1106Q +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 5576	NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter)	TRPS1 (Y1105* +2 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal dysplasia type I	GPathogenic
Select item 3349308	NM_014112.5(TRPS1):c.3275del (p.Asn1092fs)	TRPS1 (N1079fs +3 more)	Deletion (frameshift variant)	TRPS1-related disorder	GLikely pathogenic
Select item 1452663	NM_014112.5(TRPS1):c.3268_3275del (p.His1090fs)	TRPS1 (H1081fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 2482399	NM_014112.5(TRPS1):c.3268C>T (p.His1090Tyr)	TRPS1 (H1077Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2949098	NM_014112.5(TRPS1):c.3264G>A (p.Ala1088=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 813580	NM_014112.5(TRPS1):c.3263C>G (p.Ala1088Gly)	TRPS1 (A1081G +3 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 3329316	NM_014112.5(TRPS1):c.3260C>A (p.Pro1087His)	TRPS1 (P1074H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381794	NM_014112.5(TRPS1):c.3248del (p.Lys1083fs)	TRPS1 (K1074fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 2031147	NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter)	TRPS1 (R1077* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 361606	NM_014112.5(TRPS1):c.3224C>G (p.Ser1075Cys)	TRPS1 (S1075C +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2437341	NM_014112.5(TRPS1):c.3205T>A (p.Ser1069Thr)	TRPS1 (S1056T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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