ClinVar for MedGen (Select 140929) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 548

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3897811	NM_014112.5(TRPS1):c.2654delinsGGGATACTTGTT (p.Ala885fs)	TRPS1 (A872fs +3 more)	Indel (frameshift variant)	Trichorhinophalangeal dysplasia type I	GLikely pathogenic
Select item 3892734	NM_014112.5(TRPS1):c.23_28del (p.Gly8_Tyr9del)	TRPS1	Deletion (inframe_deletion +2 more)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3763967	NM_014112.5(TRPS1):c.603A>G (p.Gln201=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 3763691	NM_014112.5(TRPS1):c.1092A>G (p.Glu364=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 3763599	NM_014112.5(TRPS1):c.1631G>A (p.Arg544Gln)	TRPS1 (R531Q +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3762760	NM_014112.5(TRPS1):c.496G>A (p.Asp166Asn)	TRPS1 (D153N +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 3762635	NM_014112.5(TRPS1):c.1107G>C (p.Gln369His)	TRPS1 (Q356H +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3762540	NM_014112.5(TRPS1):c.3272C>T (p.Pro1091Leu)	TRPS1 (P1078L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3762381	NM_014112.5(TRPS1):c.1041C>T (p.Arg347=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 3761541	NM_014112.5(TRPS1):c.592A>G (p.Lys198Glu)	TRPS1 (K185E +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3760748	NM_014112.5(TRPS1):c.3499T>G (p.Ser1167Ala)	TRPS1 (S1154A +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3760681	NM_014112.5(TRPS1):c.3263C>T (p.Ala1088Val)	TRPS1 (A1075V +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3760576	NM_014112.5(TRPS1):c.2632G>A (p.Ala878Thr)	TRPS1 (A865T +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3760373	NM_014112.5(TRPS1):c.2700+1G>C	TRPS1	Single nucleotide variant (splice donor variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely pathogenic
Select item 3760342	NM_014112.5(TRPS1):c.1312C>T (p.Gln438Ter)	TRPS1 (Q425* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3760249	NM_014112.5(TRPS1):c.1914C>T (p.Asp638=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GBenign
Select item 3760052	NM_014112.5(TRPS1):c.3461_3462del (p.Tyr1154fs)	TRPS1 (Y1141fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3759750	NM_014112.5(TRPS1):c.1434C>T (p.Gly478=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 3759498	NM_014112.5(TRPS1):c.2420G>A (p.Trp807Ter)	TRPS1 (W794* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3759134	NM_014112.5(TRPS1):c.1508C>G (p.Ser503Ter)	TRPS1 (S490* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3759093	NM_014112.5(TRPS1):c.3334T>C (p.Phe1112Leu)	TRPS1 (F1099L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758989	NM_014112.5(TRPS1):c.2812A>C (p.Lys938Gln)	TRPS1 (K925Q +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758775	NM_014112.5(TRPS1):c.1049T>C (p.Phe350Ser)	TRPS1 (F337S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758771	NM_014112.5(TRPS1):c.2585C>T (p.Thr862Ile)	TRPS1 (T849I +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758642	NM_014112.5(TRPS1):c.202A>G (p.Asn68Asp)	TRPS1 (N55D +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758499	NM_014112.5(TRPS1):c.1651C>A (p.Pro551Thr)	TRPS1 (P538T +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758497	NM_014112.5(TRPS1):c.584T>C (p.Val195Ala)	TRPS1 (V182A +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758496	NM_014112.5(TRPS1):c.2879G>C (p.Arg960Thr)	TRPS1 (R947T +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758485	NM_014112.5(TRPS1):c.3469T>C (p.Tyr1157His)	TRPS1 (Y1144H +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758478	NM_014112.5(TRPS1):c.3509G>C (p.Gly1170Ala)	TRPS1 (G1157A +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758434	NM_014112.5(TRPS1):c.608C>T (p.Pro203Leu)	TRPS1 (P190L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758314	NM_014112.5(TRPS1):c.1223G>C (p.Gly408Ala)	TRPS1 (G395A +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758280	NM_014112.5(TRPS1):c.3188G>A (p.Gly1063Glu)	TRPS1 (G1050E +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3758073	NM_014112.5(TRPS1):c.867C>A (p.Ser289=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GBenign
Select item 3757862	NM_014112.5(TRPS1):c.1168A>T (p.Lys390Ter)	TRPS1 (K377* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3757786	NM_014112.5(TRPS1):c.3579C>G (p.Ala1193=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 3757478	NM_014112.5(TRPS1):c.2781A>T (p.Gly927=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 3756893	NM_014112.5(TRPS1):c.3790C>G (p.Leu1264Val)	TRPS1 (L1251V +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3756840	NM_014112.5(TRPS1):c.2198A>G (p.Asp733Gly)	TRPS1 (D720G +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3756425	NM_014112.5(TRPS1):c.1372T>A (p.Ser458Thr)	TRPS1 (S445T +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3756424	NM_014112.5(TRPS1):c.1376C>G (p.Ser459Cys)	TRPS1 (S446C +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3756321	NM_014112.5(TRPS1):c.950G>A (p.Gly317Glu)	TRPS1 (G304E +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3756269	NM_014112.5(TRPS1):c.1444C>A (p.Pro482Thr)	TRPS1 (P469T +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3755882	NM_014112.5(TRPS1):c.153T>C (p.Ser51=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 3755502	NM_014112.5(TRPS1):c.954del (p.Tyr319fs)	TRPS1 (Y306fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3755462	NM_014112.5(TRPS1):c.2923C>T (p.Gln975Ter)	TRPS1 (Q962* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3755351	NM_014112.5(TRPS1):c.2924A>T (p.Gln975Leu)	TRPS1 (Q962L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3754667	NM_014112.5(TRPS1):c.23G>A (p.Gly8Glu)	TRPS1 (D6N +1 more)	Single nucleotide variant (missense variant +1 more)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3754579	NM_014112.5(TRPS1):c.2793dup (p.Ala932fs)	TRPS1 (A919fs +3 more)	Duplication (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 3754504	NM_014112.5(TRPS1):c.35C>T (p.Thr12Ile)	TRPS1 (T12I)	Single nucleotide variant (missense variant +1 more)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3754097	NM_014112.5(TRPS1):c.2579T>G (p.Val860Gly)	TRPS1 (V847G +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3753589	NM_014112.5(TRPS1):c.1997del (p.Gly666fs)	TRPS1 (G653fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 3753503	NM_014112.5(TRPS1):c.63T>A (p.Pro21=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GBenign
Select item 3753373	NM_014112.5(TRPS1):c.1494T>A (p.Asp498Glu)	TRPS1 (D485E +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3753326	NM_014112.5(TRPS1):c.3275A>G (p.Asn1092Ser)	TRPS1 (N1079S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +2 more	GConflicting classifications of pathogenicity
Select item 3752245	NM_014112.5(TRPS1):c.2522G>A (p.Arg841Lys)	TRPS1 (R828K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3751950	NM_014112.5(TRPS1):c.3419A>G (p.Tyr1140Cys)	TRPS1 (Y1127C +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3751790	NM_014112.5(TRPS1):c.1396G>C (p.Glu466Gln)	TRPS1 (E453Q +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3751642	NM_014112.5(TRPS1):c.2044A>G (p.Thr682Ala)	TRPS1 (T669A +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 3751489	NM_014112.5(TRPS1):c.3539C>T (p.Ala1180Val)	TRPS1 (A1167V +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3751465	NM_014112.5(TRPS1):c.1411C>A (p.Gln471Lys)	TRPS1 (Q458K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 3751182	NM_014112.5(TRPS1):c.1791G>A (p.Pro597=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 3750772	NM_014112.5(TRPS1):c.1856C>T (p.Ala619Val)	TRPS1 (A606V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3749993	NM_014112.5(TRPS1):c.2701-13dup	TRPS1	Duplication (intron variant)	Trichorhinophalangeal dysplasia type I +1 more	GBenign
Select item 3749747	NM_014112.5(TRPS1):c.878A>G (p.Gln293Arg)	TRPS1 (Q280R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3749627	NM_014112.5(TRPS1):c.1138C>T (p.Pro380Ser)	TRPS1 (P367S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3749468	NM_014112.5(TRPS1):c.3669A>G (p.Gln1223=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 3748808	NM_014112.5(TRPS1):c.1194A>G (p.Ala398=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GBenign
Select item 3748458	NM_014112.5(TRPS1):c.3182A>G (p.Asp1061Gly)	TRPS1 (D1048G +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 3602634	NM_014112.5(TRPS1):c.3430del (p.Val1144fs)	TRPS1 (V1131fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I	GPathogenic
Select item 3462268	NM_014112.5(TRPS1):c.264G>T (p.Leu88Phe)	TRPS1 (L88F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3462263	NM_014112.5(TRPS1):c.1475C>T (p.Ser492Phe)	TRPS1 (S485F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
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 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 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	AARD, CCN3 +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	Multiple congenital exostosis +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 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 syndrome, type III +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 syndrome, type III +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 syndrome, type III +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 syndrome, type III +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 dysplasia type I +1 more	GLikely benign
Select item 2950103	NM_014112.5(TRPS1):c.3390T>C (p.Tyr1130=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +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 dysplasia type I +1 more	GUncertain significance
Select item 2949103	NM_014112.5(TRPS1):c.1179C>T (p.Asn393=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2949098	NM_014112.5(TRPS1):c.3264G>A (p.Ala1088=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +1 more	GUncertain significance
Select item 2948321	NM_014112.5(TRPS1):c.1545G>T (p.Ser515=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +1 more	GUncertain significance

<< First< Prev

Page of 6