ClinVar for MedGen (Select 349899) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 413

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245511	NC_000008.10:g.(?_116613171)_(116616277_?)del	TRPS1	Deletion	Trichorhinophalangeal dysplasia type I +1 more	GLikely pathogenic
Select item 3245510	NC_000008.10:g.(?_116426251)_(116430700_?)del	TRPS1	Deletion	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3245509	NC_000008.10:g.(?_116426251)_(120844804_?)del	AARD, CCN3 +14 more	Deletion	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 3245404	NC_000008.10:g.(?_116426251)_(120844804_?)dup	AARD, CCN3 +14 more	Duplication	Trichorhinophalangeal dysplasia type I +2 more	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 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 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
Select item 2948223	NM_014112.5(TRPS1):c.54dup (p.Asn19fs)	TRPS1 (N19fs +3 more)	Duplication (frameshift variant)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +1 more	GUncertain significance
Select item 2947782	NM_014112.5(TRPS1):c.1512_1522del (p.Glu504fs)	TRPS1 (E497fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 2947566	NM_014112.5(TRPS1):c.1929C>G (p.Leu643=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2947272	NM_014112.5(TRPS1):c.1942del (p.Ser648fs)	TRPS1 (S648fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 2947034	NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)	TRPS1 (Y923* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +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 dysplasia type I +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 dysplasia type I +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 dysplasia type I +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 dysplasia type I +1 more	GPathogenic
Select item 2943763	NM_014112.5(TRPS1):c.1233G>A (p.Gln411=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2943166	NM_014112.5(TRPS1):c.801del (p.Arg268fs)	TRPS1 (R259fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 2942351	NM_014112.5(TRPS1):c.2389_2390dup (p.Ser797fs)	TRPS1 (S784fs +3 more)	Microsatellite (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 2942324	NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)	TRPS1 (W397* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +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 dysplasia type I +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 dysplasia type I +1 more	GUncertain significance
Select item 2942010	NM_014112.5(TRPS1):c.3429C>T (p.His1143=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +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 dysplasia type I +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 dysplasia type I +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 dysplasia type I +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 dysplasia type I +1 more	GUncertain significance
Select item 2941205	NM_014112.5(TRPS1):c.3725dup (p.Met1242fs)	TRPS1 (M1229fs +3 more)	Duplication (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2940979	NM_014112.5(TRPS1):c.408G>A (p.Glu136=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +1 more	GUncertain significance
Select item 2940281	NM_014112.5(TRPS1):c.2523G>A (p.Arg841=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2940223	NM_014112.5(TRPS1):c.2824-17G>A	TRPS1	Single nucleotide variant (intron variant)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +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 dysplasia type I +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 dysplasia type I +1 more	GUncertain significance
Select item 2937756	NM_014112.5(TRPS1):c.3439C>T (p.Leu1147=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +1 more	GUncertain significance
Select item 2937325	NM_014112.5(TRPS1):c.2559A>C (p.Arg853=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +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 dysplasia type I +1 more	GUncertain significance
Select item 2936789	NM_014112.5(TRPS1):c.1782T>C (p.Ile594=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2936652	NM_014112.5(TRPS1):c.2975C>T (p.Pro992Leu)	TRPS1 (P979L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2936584	NM_014112.5(TRPS1):c.1040G>A (p.Arg347His)	TRPS1 (R347H +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2935769	NM_014112.5(TRPS1):c.2469C>G (p.Ser823Arg)	TRPS1 (S810R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2935275	NM_014112.5(TRPS1):c.105G>A (p.Glu35=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2934215	NM_014112.5(TRPS1):c.3637G>C (p.Val1213Leu)	TRPS1 (V1200L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2934031	NM_014112.5(TRPS1):c.3060G>T (p.Gln1020His)	TRPS1 (Q1011H +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2933502	NM_014112.5(TRPS1):c.587C>T (p.Ala196Val)	TRPS1 (A187V +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2932716	NM_014112.5(TRPS1):c.1488del (p.Asn497fs)	TRPS1 (N497fs +3 more)	Deletion (frameshift variant)	Trichorhinophalangeal dysplasia type I +1 more	GPathogenic
Select item 2932536	NM_014112.5(TRPS1):c.3008A>G (p.Glu1003Gly)	TRPS1 (E996G +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2932314	NM_014112.5(TRPS1):c.2107A>C (p.Ser703Arg)	TRPS1 (S690R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2931024	NM_014112.5(TRPS1):c.900T>C (p.Phe300=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2930471	NM_014112.5(TRPS1):c.3616A>T (p.Asn1206Tyr)	TRPS1 (N1199Y +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2930387	NM_014112.5(TRPS1):c.2213A>G (p.Asn738Ser)	TRPS1 (N738S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2930362	NM_014112.5(TRPS1):c.2451G>A (p.Pro817=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2930279	NM_014112.5(TRPS1):c.3852A>G (p.Ala1284=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2929739	NM_014112.5(TRPS1):c.3201C>T (p.Ser1067=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2929569	NM_014112.5(TRPS1):c.2397T>A (p.Ser799Arg)	TRPS1 (S792R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2928947	NM_014112.5(TRPS1):c.2097-2A>C	TRPS1	Single nucleotide variant (splice acceptor variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely pathogenic
Select item 2928483	NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn)	TRPS1 (Y563N +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2928158	NM_014112.5(TRPS1):c.653T>G (p.Leu218Arg)	TRPS1 (L211R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GUncertain significance
Select item 2927936	NM_014112.5(TRPS1):c.176C>T (p.Thr59Met)	TRPS1 (T50M +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal syndrome, type III +1 more	GLikely benign
Select item 2927579	NM_014112.5(TRPS1):c.468C>T (p.Pro156=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2927436	NM_014112.5(TRPS1):c.2524G>A (p.Asp842Asn)	TRPS1 (D833N +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2927304	NM_014112.5(TRPS1):c.570G>A (p.Leu190=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2926881	NM_014112.5(TRPS1):c.2616C>A (p.Gly872=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2926795	NM_014112.5(TRPS1):c.1014T>C (p.Asp338=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2926647	NM_014112.5(TRPS1):c.271G>A (p.Ala91Thr)	TRPS1 (A84T +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GBenign
Select item 2926512	NM_014112.5(TRPS1):c.599C>T (p.Pro200Leu)	TRPS1 (P191L +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2926380	NM_014112.5(TRPS1):c.2097-14T>C	TRPS1	Single nucleotide variant (intron variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2925444	NM_014112.5(TRPS1):c.1333A>C (p.Ser445Arg)	TRPS1 (S436R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2925260	NM_014112.5(TRPS1):c.342G>T (p.Pro114=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2925191	NM_014112.5(TRPS1):c.1435G>A (p.Gly479Ser)	TRPS1 (G466S +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GUncertain significance
Select item 2925186	NM_014112.5(TRPS1):c.2442G>A (p.Arg814=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2924419	NM_014112.5(TRPS1):c.523G>A (p.Glu175Lys)	TRPS1 (E166K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GBenign
Select item 2924182	NM_014112.5(TRPS1):c.3540G>C (p.Ala1180=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2924081	NM_014112.5(TRPS1):c.1585G>A (p.Glu529Lys)	TRPS1 (E516K +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2924064	NM_014112.5(TRPS1):c.3627C>G (p.Pro1209=)	TRPS1	Single nucleotide variant (synonymous variant)	Trichorhinophalangeal dysplasia type I +1 more	GLikely benign
Select item 2923827	NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg)	TRPS1 (G460R +3 more)	Single nucleotide variant (missense variant)	Trichorhinophalangeal dysplasia type I +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 5