ClinVar for Gene (Select 7227) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377556	NM_014112.5(TRPS1):c.782_785dup (p.Leu263fs)	TRPS1 (L250fs +3 more)	Duplication (frameshift variant)	Trichorhinophalangeal dysplasia type I	GLikely pathogenic
Select item 3377551	NM_014112.5(TRPS1):c.1288_1296del (p.Ile430_Pro432del)	TRPS1	Deletion	Trichorhinophalangeal dysplasia type I	GUncertain significance
Select item 3372063	NM_014112.5(TRPS1):c.344A>G (p.His115Arg)	TRPS1 (H102R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371288	NM_014112.5(TRPS1):c.2897T>A (p.Leu966His)	TRPS1 (L953H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364777	NM_014112.5(TRPS1):c.2110T>A (p.Cys704Ser)	TRPS1 (C691S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359403	NM_014112.5(TRPS1):c.2256G>T (p.Glu752Asp)	TRPS1 (E739D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3329325	NM_014112.5(TRPS1):c.1350A>C (p.Lys450Asn)	TRPS1 (K441N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329324	NM_014112.5(TRPS1):c.824G>A (p.Ser275Asn)	TRPS1 (S275N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329323	NM_014112.5(TRPS1):c.2766G>T (p.Lys922Asn)	TRPS1 (K909N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329321	NM_014112.5(TRPS1):c.3112A>T (p.Thr1038Ser)	TRPS1 (T1029S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329320	NM_014112.5(TRPS1):c.3097G>A (p.Val1033Ile)	TRPS1 (V1033I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329319	NM_014112.5(TRPS1):c.3029C>A (p.Pro1010Gln)	TRPS1 (P1010Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329318	NM_014112.5(TRPS1):c.887A>G (p.Asn296Ser)	TRPS1 (N287S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3329314	NM_014112.5(TRPS1):c.1162T>G (p.Ser388Ala)	TRPS1 (S379A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255374	NM_014112.5(TRPS1):c.455T>C (p.Met152Thr)	TRPS1 (M139T +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I	GBenign
Select item 3251110	NM_014112.5(TRPS1):c.2823+2T>G	TRPS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3245563	NC_000008.10:g.(?_116426251)_(119965024_?)del	AARD, EIF3H +9 more	Deletion	not provided	GPathogenic
Select item 3245511	NC_000008.10:g.(?_116613171)_(116616277_?)del	TRPS1	Deletion	Trichorhinophalangeal syndrome, type III +1 more	GLikely pathogenic
Select item 3245510	NC_000008.10:g.(?_116426251)_(116430700_?)del	TRPS1	Deletion	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 3245509	NC_000008.10:g.(?_116426251)_(120844804_?)del	CCN3, AARD +14 more	Deletion	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 3245404	NC_000008.10:g.(?_116426251)_(120844804_?)dup	AARD, CCN3 +14 more	Duplication	Trichorhinophalangeal syndrome, type III +2 more	GUncertain significance
Select item 3242047	NM_014112.5(TRPS1):c.812C>T (p.Ala271Val)	TRPS1 (A258V +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I	GUncertain significance
Select item 3183452	NM_014112.5(TRPS1):c.841C>T (p.His281Tyr)	TRPS1 (H268Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183451	NM_014112.5(TRPS1):c.632A>G (p.Asn211Ser)	TRPS1 (N202S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3183448	NM_014112.5(TRPS1):c.2725del (p.Cys909fs)	TRPS1 (C909fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3183447	NM_014112.5(TRPS1):c.2705G>A (p.Arg902His)	TRPS1 (R895H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183446	NM_014112.5(TRPS1):c.2066A>C (p.Gln689Pro)	TRPS1 (Q680P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183445	NM_014112.5(TRPS1):c.1982C>T (p.Ala661Val)	TRPS1 (A652V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3183444	NM_014112.5(TRPS1):c.1742C>T (p.Pro581Leu)	TRPS1 (P574L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183443	NM_014112.5(TRPS1):c.1702A>G (p.Asn568Asp)	TRPS1 (N555D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3033779	NM_014112.5(TRPS1):c.1404T>C (p.Tyr468=)	TRPS1	Single nucleotide variant (synonymous variant)	TRPS1-related disorder	GLikely benign
Select item 3033439	NM_014112.5(TRPS1):c.1875C>G (p.Val625=)	TRPS1	Single nucleotide variant (synonymous variant)	TRPS1-related disorder	GLikely benign
Select item 3030432	NM_014112.5(TRPS1):c.521C>T (p.Thr174Ile)	TRPS1 (T161I +3 more)	Single nucleotide variant (missense variant)	TRPS1-related disorder	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 3026989	NM_014112.5(TRPS1):c.2531C>T (p.Pro844Leu)	TRPS1 (P831L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2954460	NM_014112.5(TRPS1):c.2049del (p.Lys683fs)	TRPS1 (K670fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2953960	NM_014112.5(TRPS1):c.1244C>T (p.Thr415Ile)	TRPS1 (T406I +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
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 2953532	NM_014112.5(TRPS1):c.895G>T (p.Val299Leu)	TRPS1 (V286L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2953368	NM_014112.5(TRPS1):c.3020G>A (p.Arg1007Lys)	TRPS1 (R1007K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2953365	NM_014112.5(TRPS1):c.1150G>T (p.Val384Phe)	TRPS1 (V375F +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2953259	NM_014112.5(TRPS1):c.940T>A (p.Leu314Ile)	TRPS1 (L301I +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2952830	NM_014112.5(TRPS1):c.2792A>T (p.Asn931Ile)	TRPS1 (N918I +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2952737	NM_014112.5(TRPS1):c.2725T>C (p.Cys909Arg)	TRPS1 (C909R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2952441	NM_014112.5(TRPS1):c.2738dup (p.Thr914fs)	TRPS1 (T905fs +3 more)	Duplication (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 2951708	NM_014112.5(TRPS1):c.1217A>G (p.Asp406Gly)	TRPS1 (D393G +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +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 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 2949230	NM_014112.5(TRPS1):c.304G>A (p.Glu102Lys)	TRPS1 (E102K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2949129	NM_014112.5(TRPS1):c.2183A>G (p.His728Arg)	TRPS1 (H715R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2949103	NM_014112.5(TRPS1):c.1179C>T (p.Asn393=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
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 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 2948321	NM_014112.5(TRPS1):c.1545G>T (p.Ser515=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2948224	NM_014112.5(TRPS1):c.49A>G (p.Lys17Glu)	TRPS1 (K10E +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2948223	NM_014112.5(TRPS1):c.54dup (p.Asn19fs)	TRPS1 (N19fs +3 more)	Duplication (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
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 2947782	NM_014112.5(TRPS1):c.1512_1522del (p.Glu504fs)	TRPS1 (E497fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2947566	NM_014112.5(TRPS1):c.1929C>G (p.Leu643=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2947272	NM_014112.5(TRPS1):c.1942del (p.Ser648fs)	TRPS1 (S648fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2947034	NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)	TRPS1 (Y923* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2946740	NM_014112.5(TRPS1):c.923A>G (p.Asn308Ser)	TRPS1 (N308S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2946615	NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter)	TRPS1 (Q827* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2945985	NM_014112.5(TRPS1):c.2534A>G (p.Asn845Ser)	TRPS1 (N836S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +2 more	GLikely benign
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 2945973	NM_014112.5(TRPS1):c.2750C>T (p.Thr917Ile)	TRPS1 (T917I +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2944358	NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter)	TRPS1 (S624* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2943763	NM_014112.5(TRPS1):c.1233G>A (p.Gln411=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2943166	NM_014112.5(TRPS1):c.801del (p.Arg268fs)	TRPS1 (R259fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2942351	NM_014112.5(TRPS1):c.2389_2390dup (p.Ser797fs)	TRPS1 (S784fs +3 more)	Microsatellite (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2942324	NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)	TRPS1 (W397* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2942309	NM_014112.5(TRPS1):c.212A>G (p.Glu71Gly)	TRPS1 (E58G +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2942265	NM_014112.5(TRPS1):c.2697A>T (p.Leu899Phe)	TRPS1 (L899F +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2942152	NM_014112.5(TRPS1):c.1615C>A (p.Gln539Lys)	TRPS1 (Q530K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
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 2941893	NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)	TRPS1 (W781* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 2941824	NM_014112.5(TRPS1):c.2753C>T (p.Ser918Phe)	TRPS1 (S911F +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2941613	NM_014112.5(TRPS1):c.416A>G (p.Lys139Arg)	TRPS1 (K132R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2941414	NM_014112.5(TRPS1):c.2026A>G (p.Ser676Gly)	TRPS1 (S676G +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2941341	NM_014112.5(TRPS1):c.1975C>A (p.Gln659Lys)	TRPS1 (Q646K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	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 2940979	NM_014112.5(TRPS1):c.408G>A (p.Glu136=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2940544	NM_014112.5(TRPS1):c.926C>T (p.Ser309Phe)	TRPS1 (S302F +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2940281	NM_014112.5(TRPS1):c.2523G>A (p.Arg841=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2940223	NM_014112.5(TRPS1):c.2824-17G>A	TRPS1	Single nucleotide variant (intron variant)	Trichorhinophalangeal syndrome, type III +1 more	GBenign
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 2938542	NM_014112.5(TRPS1):c.3052G>A (p.Glu1018Lys)	TRPS1 (E1005K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2938466	NM_014112.5(TRPS1):c.1697T>G (p.Leu566Arg)	TRPS1 (L566R +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 2937680	NM_014112.5(TRPS1):c.2195A>G (p.Gln732Arg)	TRPS1 (Q725R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2937325	NM_014112.5(TRPS1):c.2559A>C (p.Arg853=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2937078	NM_014112.5(TRPS1):c.504G>T (p.Lys168Asn)	TRPS1 (K155N +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2936789	NM_014112.5(TRPS1):c.1782T>C (p.Ile594=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign

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