17110[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 146126	GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	ADAMTS18, ADAT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 60024	GRCh38/hg38 16q23.1(chr16:76877375-77933220)x3	ADAMTS18, LINC02131 +25 more	Copy number gain	See cases	GUncertain significance
Select item 1684629	Single allele	ADAMTS18, LOC126862407 +2 more	Deletion	Microcornea-myopic chorioretinal atrophy	GLikely pathogenic
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)	not provided +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 1588640	NM_199355.4(ADAMTS18):c.3550+17C>A	ADAMTS18, LOC126862407	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983838	NM_199355.4(ADAMTS18):c.3550+14A>G	ADAMTS18, LOC126862407	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553229	NM_199355.4(ADAMTS18):c.3550+9G>A	ADAMTS18, LOC126862407	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101314	NM_199355.4(ADAMTS18):c.3550+3A>G	ADAMTS18, LOC126862407	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2042524	NM_199355.4(ADAMTS18):c.3550+1G>A	ADAMTS18, LOC126862407	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1401496	NM_199355.4(ADAMTS18):c.3550G>C (p.Glu1184Gln)	ADAMTS18, LOC126862407 (E1012Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946733	NM_199355.4(ADAMTS18):c.3536_3548delinsGA (p.Ala1179fs)	ADAMTS18, LOC126862407 (A1007fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2096631	NM_199355.4(ADAMTS18):c.3541G>A (p.Glu1181Lys)	ADAMTS18, LOC126862407 (E1181K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011822	NM_199355.4(ADAMTS18):c.3536C>A (p.Ala1179Asp)	ADAMTS18, LOC126862407 (A1007D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777045	NM_199355.4(ADAMTS18):c.3525C>T (p.Asn1175=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2543075	NM_199355.4(ADAMTS18):c.3518A>T (p.Asn1173Ile)	ADAMTS18, LOC126862407 (N1173I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1491638	NM_199355.4(ADAMTS18):c.3512C>A (p.Ala1171Asp)	ADAMTS18, LOC126862407 (A1171D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896606	NM_199355.4(ADAMTS18):c.3509G>A (p.Arg1170Gln)	ADAMTS18, LOC126862407 (R998Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116553	NM_199355.4(ADAMTS18):c.3508C>T (p.Arg1170Ter)	ADAMTS18, LOC126862407 (R998* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 770792	NM_199355.4(ADAMTS18):c.3501G>A (p.Pro1167=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2296954	NM_199355.4(ADAMTS18):c.3500C>G (p.Pro1167Arg)	ADAMTS18, LOC126862407 (P1167R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1034627	NM_199355.4(ADAMTS18):c.3500C>T (p.Pro1167Leu)	LOC126862407, ADAMTS18 (P995L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463419	NM_199355.4(ADAMTS18):c.3499C>T (p.Pro1167Ser)	ADAMTS18, LOC126862407 (P1167S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2016349	NM_199355.4(ADAMTS18):c.3489T>C (p.His1163=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356746	NM_199355.4(ADAMTS18):c.3481C>G (p.Leu1161Val)	ADAMTS18, LOC126862407 (L1161V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165095	NM_199355.4(ADAMTS18):c.3476G>C (p.Ser1159Thr)	ADAMTS18, LOC126862407 (S1159T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1025992	NM_199355.4(ADAMTS18):c.3476G>A (p.Ser1159Asn)	ADAMTS18, LOC126862407 (S1159N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836407	NM_199355.4(ADAMTS18):c.3473C>G (p.Ser1158Ter)	ADAMTS18, LOC126862407 (S1158* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1045400	NM_199355.4(ADAMTS18):c.3469T>C (p.Ser1157Pro)	ADAMTS18, LOC126862407 (S1157P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003038	NM_199355.4(ADAMTS18):c.3466C>T (p.Pro1156Ser)	ADAMTS18, LOC126862407 (P1156S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617227	NM_199355.4(ADAMTS18):c.3465G>A (p.Arg1155=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935623	NM_199355.4(ADAMTS18):c.3464G>A (p.Arg1155Gln)	ADAMTS18, LOC126862407 (R1155Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559528	NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp)	ADAMTS18, LOC126862407 (R1155W +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis +1 more	GUncertain significance
Select item 3267026	NM_199355.4(ADAMTS18):c.3457C>G (p.Gln1153Glu)	ADAMTS18, LOC126862407 (Q981E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1069405	NM_199355.4(ADAMTS18):c.3454C>T (p.Gln1152Ter)	ADAMTS18, LOC126862407 (Q1152* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1935830	NM_199355.4(ADAMTS18):c.3451G>A (p.Val1151Ile)	ADAMTS18, LOC126862407 (V1151I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810577	NM_199355.4(ADAMTS18):c.3450T>C (p.Cys1150=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927561	NM_199355.4(ADAMTS18):c.3441A>G (p.Ser1147=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866530	NM_199355.4(ADAMTS18):c.3437G>A (p.Arg1146Gln)	ADAMTS18, LOC126862407 (R1146Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599952	NM_199355.4(ADAMTS18):c.3436C>A (p.Arg1146=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1669860	NM_199355.4(ADAMTS18):c.3435C>G (p.Thr1145=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1000953	NM_199355.4(ADAMTS18):c.3430C>G (p.Gln1144Glu)	ADAMTS18, LOC126862407 (Q1144E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009984	NM_199355.4(ADAMTS18):c.3429C>G (p.Val1143=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543563	NM_199355.4(ADAMTS18):c.3427G>T (p.Val1143Phe)	ADAMTS18, LOC126862407 (V971F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2020235	NM_199355.4(ADAMTS18):c.3427del (p.Val1143fs)	ADAMTS18, LOC126862407 (V1143fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2624305	NM_199355.4(ADAMTS18):c.3421G>A (p.Gly1141Arg)	ADAMTS18, LOC126862407 (G969R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 559529	NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val)	ADAMTS18, LOC126862407 (G1140V +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GUncertain significance
Select item 1394321	NM_199355.4(ADAMTS18):c.3418G>T (p.Gly1140Trp)	ADAMTS18, LOC126862407 (G968W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390174	NM_199355.4(ADAMTS18):c.3418G>C (p.Gly1140Arg)	LOC126862407, ADAMTS18 (G1140R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836785	NM_199355.4(ADAMTS18):c.3418G>A (p.Gly1140Arg)	ADAMTS18, LOC126862407 (G1140R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144510	NM_199355.4(ADAMTS18):c.3408A>C (p.Thr1136=)	ADAMTS18, LOC126862407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1066071	NM_199355.4(ADAMTS18):c.3403-1G>A	ADAMTS18, LOC126862407	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1167887	NM_199355.4(ADAMTS18):c.3403-4G>A	ADAMTS18, LOC126862407	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784540	NM_199355.4(ADAMTS18):c.3403-4G>C	ADAMTS18, LOC126862407	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1047407	NM_199355.4(ADAMTS18):c.3403-8T>G	ADAMTS18, LOC126862407	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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