12340[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 146552	GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1	LOC110120802, LOC111556135 +93 more	Copy number loss	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 145965	GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1	MTBP, RAD21 +101 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 152006	GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1	AARD, CCN3 +108 more	Copy number loss	See cases	GPathogenic
Select item 150131	GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1	AARD, CCN3 +106 more	Copy number loss	See cases	GPathogenic
Select item 150636	GRCh38/hg38 8q23.3(chr8:115401331-115502029)x1	LOC110120802, LOC130000981 +2 more	Copy number loss	See cases	GPathogenic
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 438459	NG_012383.3:g.(87002_255549)_(259980_?)del	LOC110120802, LOC130000981 +3 more	Deletion	Trichorhinophalangeal dysplasia type I	GPathogenic
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

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