ADAMTS18[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2974547	NM_199355.4(ADAMTS18):c.3663C>T (p.Ile1221=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139124	NM_199355.4(ADAMTS18):c.3657G>A (p.Arg1219=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335622	NM_199355.4(ADAMTS18):c.3656G>A (p.Arg1219Lys)	ADAMTS18 (R1047K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1123778	NM_199355.4(ADAMTS18):c.3648A>G (p.Ser1216=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426057	NM_199355.4(ADAMTS18):c.3647C>T (p.Ser1216Leu)	ADAMTS18 (S1044L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655569	NM_199355.4(ADAMTS18):c.3636A>G (p.Gln1212=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427881	NM_199355.4(ADAMTS18):c.3634C>T (p.Gln1212Ter)	ADAMTS18 (Q1040* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2990905	NM_199355.4(ADAMTS18):c.3630A>C (p.Gly1210=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747539	NM_199355.4(ADAMTS18):c.3628G>A (p.Gly1210Arg)	ADAMTS18 (G1038R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 797736	NM_199355.4(ADAMTS18):c.3627C>T (p.Tyr1209=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 939891	NM_199355.4(ADAMTS18):c.3625T>G (p.Tyr1209Asp)	ADAMTS18 (Y1037D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009680	NM_199355.4(ADAMTS18):c.3612C>T (p.Cys1204=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993990	NM_199355.4(ADAMTS18):c.3609C>G (p.Val1203=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498495	NM_199355.4(ADAMTS18):c.3608T>C (p.Val1203Ala)	ADAMTS18 (V1031A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958409	NM_199355.4(ADAMTS18):c.3607G>C (p.Val1203Leu)	ADAMTS18 (V1031L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006171	NM_199355.4(ADAMTS18):c.3597T>G (p.Pro1199=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 847933	NM_199355.4(ADAMTS18):c.3596C>T (p.Pro1199Leu)	ADAMTS18 (P1199L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044023	NM_199355.4(ADAMTS18):c.3595C>G (p.Pro1199Ala)	ADAMTS18 (P1027A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525017	NM_199355.4(ADAMTS18):c.3592G>A (p.Val1198Ile)	ADAMTS18 (V1198I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717343	NM_199355.4(ADAMTS18):c.3588C>A (p.His1196Gln)	ADAMTS18 (H1024Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725691	NM_199355.4(ADAMTS18):c.3573C>T (p.Phe1191=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2974608	NM_199355.4(ADAMTS18):c.3570T>C (p.Asp1190=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774925	NM_199355.4(ADAMTS18):c.3565G>A (p.Val1189Ile)	ADAMTS18 (V1017I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1092732	NM_199355.4(ADAMTS18):c.3564C>T (p.Cys1188=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 954545	NM_199355.4(ADAMTS18):c.3562T>A (p.Cys1188Ser)	ADAMTS18 (C1016S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507127	NM_199355.4(ADAMTS18):c.3557C>T (p.Pro1186Leu)	ADAMTS18 (P1186L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577584	NM_199355.4(ADAMTS18):c.3556C>G (p.Pro1186Ala)	ADAMTS18 (P1014A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418623	NM_199355.4(ADAMTS18):c.3556C>T (p.Pro1186Ser)	ADAMTS18 (P1186S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2241962	NM_199355.4(ADAMTS18):c.3553G>A (p.Asp1185Asn)	ADAMTS18 (D1185N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 840779	NM_199355.4(ADAMTS18):c.3553G>T (p.Asp1185Tyr)	ADAMTS18 (D1185Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1380730	NM_199355.4(ADAMTS18):c.3551A>G (p.Glu1184Gly)	ADAMTS18 (E1012G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168640	NM_199355.4(ADAMTS18):c.3551-17A>T	ADAMTS18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1673789	NM_199355.4(ADAMTS18):c.3551-18T>A	ADAMTS18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844425	NM_199355.4(ADAMTS18):c.3402+20_3402+41del	ADAMTS18	Deletion (intron variant)	not provided	GLikely benign
Select item 1529523	NM_199355.4(ADAMTS18):c.3402+16T>C	ADAMTS18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636490	NM_199355.4(ADAMTS18):c.3402+14G>A	ADAMTS18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663319	NM_199355.4(ADAMTS18):c.3402+13C>T	ADAMTS18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560448	NM_199355.4(ADAMTS18):c.3402+8C>G	ADAMTS18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1017272	NM_199355.4(ADAMTS18):c.3402+4G>T	ADAMTS18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2825085	NM_199355.4(ADAMTS18):c.3402+2T>G	ADAMTS18	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2131610	NM_199355.4(ADAMTS18):c.3402+1G>A	ADAMTS18	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1001944	NM_199355.4(ADAMTS18):c.3402G>A (p.Gln1134=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2045731	NM_199355.4(ADAMTS18):c.3393G>C (p.Pro1131=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643822	NM_199355.4(ADAMTS18):c.3393G>A (p.Pro1131=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001088	NM_199355.4(ADAMTS18):c.3392C>T (p.Pro1131Leu)	ADAMTS18 (P1131L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1107146	NM_199355.4(ADAMTS18):c.3387A>G (p.Ser1129=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1069609	NM_199355.4(ADAMTS18):c.3380G>A (p.Trp1127Ter)	ADAMTS18 (W1127* +1 more)	Single nucleotide variant (nonsense)	Microcornea-myopic chorioretinal atrophy +1 more	GPathogenic/Likely pathogenic
Select item 1058523	NM_199355.4(ADAMTS18):c.3377G>A (p.Gly1126Glu)	ADAMTS18 (G1126E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353641	NM_199355.4(ADAMTS18):c.3369G>T (p.Met1123Ile)	ADAMTS18 (M951I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503364	NM_199355.4(ADAMTS18):c.3368T>C (p.Met1123Thr)	ADAMTS18 (M951T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011056	NM_199355.4(ADAMTS18):c.3365A>G (p.Asn1122Ser)	ADAMTS18 (N1122S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409071	NM_199355.4(ADAMTS18):c.3362A>G (p.Tyr1121Cys)	ADAMTS18 (Y1121C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 842151	NM_199355.4(ADAMTS18):c.3355C>G (p.Pro1119Ala)	ADAMTS18 (P1119A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391608	NM_199355.4(ADAMTS18):c.3353A>T (p.His1118Leu)	ADAMTS18 (H946L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019629	NM_199355.4(ADAMTS18):c.3352C>T (p.His1118Tyr)	ADAMTS18 (H946Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1080879	NM_199355.4(ADAMTS18):c.3346C>A (p.Pro1116Thr)	ADAMTS18 (P1116T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1360488	NM_199355.4(ADAMTS18):c.3338G>A (p.Arg1113Gln)	ADAMTS18 (R1113Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1035093	NM_199355.4(ADAMTS18):c.3337C>T (p.Arg1113Trp)	ADAMTS18 (R941W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377723	NM_199355.4(ADAMTS18):c.3335G>A (p.Arg1112Gln)	ADAMTS18 (R940Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1068894	NM_199355.4(ADAMTS18):c.3334C>T (p.Arg1112Ter)	ADAMTS18 (R1112* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1524804	NM_199355.4(ADAMTS18):c.3331A>G (p.Asn1111Asp)	ADAMTS18 (N1111D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433035	NM_199355.4(ADAMTS18):c.3331A>T (p.Asn1111Tyr)	ADAMTS18 (N939Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1117416	NM_199355.4(ADAMTS18):c.3321A>G (p.Glu1107=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082476	NM_199355.4(ADAMTS18):c.3319G>C (p.Glu1107Gln)	ADAMTS18 (E1107Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483605	NM_199355.4(ADAMTS18):c.3317T>G (p.Leu1106Trp)	ADAMTS18 (L1106W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3076331	NM_199355.4(ADAMTS18):c.3305C>T (p.Pro1102Leu)	ADAMTS18 (P1102L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1485427	NM_199355.4(ADAMTS18):c.3295A>G (p.Ile1099Val)	ADAMTS18 (I927V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3076328	NM_199355.4(ADAMTS18):c.3293A>G (p.Asn1098Ser)	ADAMTS18 (N1098S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1134410	NM_199355.4(ADAMTS18):c.3290G>A (p.Arg1097His)	ADAMTS18 (R1097H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 842209	NM_199355.4(ADAMTS18):c.3290G>C (p.Arg1097Pro)	ADAMTS18 (R1097P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155007	NM_199355.4(ADAMTS18):c.3289C>T (p.Arg1097Cys)	ADAMTS18 (R1097C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1915770	NM_199355.4(ADAMTS18):c.3285A>G (p.Arg1095=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516064	NM_199355.4(ADAMTS18):c.3284G>A (p.Arg1095Lys)	ADAMTS18 (R923K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475260	NM_199355.4(ADAMTS18):c.3284G>C (p.Arg1095Thr)	ADAMTS18 (R1095T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143485	NM_199355.4(ADAMTS18):c.3280C>T (p.Arg1094Ter)	ADAMTS18 (R922* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2060442	NM_199355.4(ADAMTS18):c.3276A>G (p.Pro1092=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139780	NM_199355.4(ADAMTS18):c.3273C>T (p.Phe1091=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376211	NM_199355.4(ADAMTS18):c.3272T>A (p.Phe1091Tyr)	ADAMTS18 (F1091Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 847810	NM_199355.4(ADAMTS18):c.3269C>G (p.Thr1090Ser)	ADAMTS18 (T1090S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1056710	NM_199355.4(ADAMTS18):c.3265A>G (p.Ile1089Val)	ADAMTS18 (I1089V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1038774	NM_199355.4(ADAMTS18):c.3265A>C (p.Ile1089Leu)	ADAMTS18 (I917L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1102336	NM_199355.4(ADAMTS18):c.3262C>A (p.Leu1088Met)	ADAMTS18 (L1088M +1 more)	Single nucleotide variant (missense variant)	ADAMTS18-related disorder +1 more	GLikely benign
Select item 1454085	NM_199355.4(ADAMTS18):c.3244A>T (p.Lys1082Ter)	ADAMTS18 (K910* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1363261	NM_199355.4(ADAMTS18):c.3241G>A (p.Glu1081Lys)	ADAMTS18 (E1081K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819381	NM_199355.4(ADAMTS18):c.3239_3240delinsTA (p.Ser1080Ile)	ADAMTS18 (S1080I +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1166169	NM_199355.4(ADAMTS18):c.3240C>A (p.Ser1080Arg)	ADAMTS18 (S1080R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1081280	NM_199355.4(ADAMTS18):c.3240C>T (p.Ser1080=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012608	NM_199355.4(ADAMTS18):c.3232_3234dup (p.Lys1078_Cys1079insLys)	ADAMTS18	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 837871	NM_199355.4(ADAMTS18):c.3230T>G (p.Met1077Arg)	ADAMTS18 (M1077R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429724	NM_199355.4(ADAMTS18):c.3228G>T (p.Glu1076Asp)	ADAMTS18 (E1076D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1137871	NM_199355.4(ADAMTS18):c.3225G>A (p.Arg1075=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1023079	NM_199355.4(ADAMTS18):c.3222G>C (p.Lys1074Asn)	ADAMTS18 (K1074N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438441	NM_199355.4(ADAMTS18):c.3214G>A (p.Val1072Met)	ADAMTS18 (V900M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093197	NM_199355.4(ADAMTS18):c.3212G>C (p.Gly1071Ala)	ADAMTS18 (G1071A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1129274	NM_199355.4(ADAMTS18):c.3198A>G (p.Ala1066=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549463	NM_199355.4(ADAMTS18):c.3195T>C (p.Ser1065=)	ADAMTS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061024	NM_199355.4(ADAMTS18):c.3194C>G (p.Ser1065Cys)	ADAMTS18 (S1065C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1150851	NM_199355.4(ADAMTS18):c.3190-4C>T	ADAMTS18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651008	NM_199355.4(ADAMTS18):c.3190-10T>C	ADAMTS18	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1636868	NM_199355.4(ADAMTS18):c.3190-11T>C	ADAMTS18	Single nucleotide variant (intron variant)	not provided	GLikely benign

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