"Ambry Genetics"[submitter] AND "ADAMTS18"[gene] - ClinVar

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 1376211	NM_199355.4(ADAMTS18):c.3272T>A (p.Phe1091Tyr)	ADAMTS18 (F1091Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Inborn genetic diseases +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1046373	NM_199355.4(ADAMTS18):c.3140G>C (p.Arg1047Pro)	ADAMTS18 (R1047P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2265362	NM_199355.4(ADAMTS18):c.3109C>A (p.Pro1037Thr)	ADAMTS18 (P865T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303807	NM_199355.4(ADAMTS18):c.3054C>G (p.Cys1018Trp)	ADAMTS18 (C1018W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528350	NM_199355.4(ADAMTS18):c.3031G>T (p.Val1011Leu)	ADAMTS18 (V1011L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 858364	NM_199355.4(ADAMTS18):c.3026G>A (p.Arg1009Gln)	ADAMTS18 (R837Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1407120	NM_199355.4(ADAMTS18):c.2926C>T (p.Pro976Ser)	ADAMTS18 (P804S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2307489	NM_199355.4(ADAMTS18):c.2845G>A (p.Gly949Arg)	ADAMTS18 (G777R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1045166	NM_199355.4(ADAMTS18):c.2795C>T (p.Pro932Leu)	ADAMTS18 (P760L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1962450	NM_199355.4(ADAMTS18):c.2771A>G (p.Lys924Arg)	ADAMTS18 (K752R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1003582	NM_199355.4(ADAMTS18):c.2768C>A (p.Pro923His)	ADAMTS18 (P751H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1463757	NM_199355.4(ADAMTS18):c.2767C>A (p.Pro923Thr)	ADAMTS18 (P923T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 841541	NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu)	ADAMTS18 (K918E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1004842	NM_199355.4(ADAMTS18):c.2641G>A (p.Val881Met)	ADAMTS18 (V709M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1932888	NM_199355.4(ADAMTS18):c.2621C>T (p.Pro874Leu)	ADAMTS18 (P702L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2539774	NM_199355.4(ADAMTS18):c.2620C>T (p.Pro874Ser)	ADAMTS18 (P702S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299391	NM_199355.4(ADAMTS18):c.2578C>T (p.Leu860Phe)	ADAMTS18 (L688F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1017236	NM_199355.4(ADAMTS18):c.2519C>T (p.Thr840Met)	ADAMTS18 (T668M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 779018	NM_199355.4(ADAMTS18):c.2500C>T (p.Pro834Ser)	ADAMTS18 (P662S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1165565	NM_199355.4(ADAMTS18):c.2480G>A (p.Arg827His)	ADAMTS18 (R655H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2406095	NM_199355.4(ADAMTS18):c.2479C>T (p.Arg827Cys)	ADAMTS18 (R655C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273178	NM_199355.4(ADAMTS18):c.2368G>T (p.Ala790Ser)	ADAMTS18 (A618S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1347441	NM_199355.4(ADAMTS18):c.2365C>G (p.Leu789Val)	ADAMTS18 (L789V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2315047	NM_199355.4(ADAMTS18):c.2360G>C (p.Ser787Thr)	ADAMTS18 (S615T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611918	NM_199355.4(ADAMTS18):c.2341G>A (p.Glu781Lys)	ADAMTS18 (E781K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471274	NM_199355.4(ADAMTS18):c.2297C>T (p.Pro766Leu)	ADAMTS18 (P594L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1015819	NM_199355.4(ADAMTS18):c.2218G>A (p.Val740Ile)	ADAMTS18 (V568I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269089	NM_199355.4(ADAMTS18):c.2209G>A (p.Ala737Thr)	ADAMTS18 (A737T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284845	NM_199355.4(ADAMTS18):c.2170G>A (p.Gly724Arg)	ADAMTS18 (G552R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1006005	NM_199355.4(ADAMTS18):c.2070C>G (p.Asn690Lys)	ADAMTS18 (N518K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 855626	NM_199355.4(ADAMTS18):c.2026G>T (p.Val676Leu)	ADAMTS18 (V676L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2551424	NM_199355.4(ADAMTS18):c.2006A>C (p.Gln669Pro)	ADAMTS18 (Q669P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 953231	NM_199355.4(ADAMTS18):c.1897C>T (p.Arg633Cys)	ADAMTS18 (R461C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2489105	NM_199355.4(ADAMTS18):c.1856C>G (p.Pro619Arg)	ADAMTS18 (P619R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1015435	NM_199355.4(ADAMTS18):c.1829A>G (p.Lys610Arg)	ADAMTS18 (K438R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2549024	NM_199355.4(ADAMTS18):c.1801T>C (p.Cys601Arg)	ADAMTS18 (C601R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1133752	NM_199355.4(ADAMTS18):c.1732G>A (p.Val578Ile)	ADAMTS18 (V406I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1122696	NM_199355.4(ADAMTS18):c.1693G>A (p.Val565Ile)	ADAMTS18 (V393I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1026016	NM_199355.4(ADAMTS18):c.1643G>A (p.Arg548Gln)	ADAMTS18 (R376Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 950120	NM_199355.4(ADAMTS18):c.1640A>T (p.His547Leu)	ADAMTS18 (H547L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1473418	NM_199355.4(ADAMTS18):c.1616A>G (p.Asp539Gly)	ADAMTS18 (D367G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2527830	NM_199355.4(ADAMTS18):c.1484T>C (p.Val495Ala)	ADAMTS18 (V323A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323073	NM_199355.4(ADAMTS18):c.1472C>T (p.Ala491Val)	ADAMTS18 (A319V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535928	NM_199355.4(ADAMTS18):c.1465C>A (p.Pro489Thr)	ADAMTS18 (P317T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388228	NM_199355.4(ADAMTS18):c.1406A>G (p.Asn469Ser)	ADAMTS18 (N469S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613273	NM_199355.4(ADAMTS18):c.1399G>A (p.Gly467Arg)	ADAMTS18 (G295R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616979	NM_199355.4(ADAMTS18):c.1339G>A (p.Asp447Asn)	ADAMTS18 (D275N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522339	NM_199355.4(ADAMTS18):c.1235G>C (p.Gly412Ala)	ADAMTS18 (G240A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 950841	NM_199355.4(ADAMTS18):c.1135A>C (p.Asn379His)	ADAMTS18 (N207H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2539540	NM_199355.4(ADAMTS18):c.1121C>A (p.Ala374Asp)	ADAMTS18 (A374D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 843100	NM_199355.4(ADAMTS18):c.1073A>G (p.Asn358Ser)	ADAMTS18 (N186S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2527388	NM_199355.4(ADAMTS18):c.1037T>C (p.Ile346Thr)	ADAMTS18 (I346T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262158	NM_199355.4(ADAMTS18):c.1007G>C (p.Ser336Thr)	ADAMTS18 (S336T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424005	NM_199355.4(ADAMTS18):c.923A>C (p.Lys308Thr)	ADAMTS18 (K136T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 855862	NM_199355.4(ADAMTS18):c.845C>G (p.Pro282Arg)	ADAMTS18 (P282R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2237791	NM_199355.4(ADAMTS18):c.834C>A (p.Ser278Arg)	ADAMTS18 (S106R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1399189	NM_199355.4(ADAMTS18):c.769C>T (p.Arg257Cys)	ADAMTS18 (R257C)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1047108	NM_199355.4(ADAMTS18):c.739A>G (p.Arg247Gly)	ADAMTS18 (R247G)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 1001890	NM_199355.4(ADAMTS18):c.737G>A (p.Arg246Gln)	ADAMTS18 (E73K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1504450	NM_199355.4(ADAMTS18):c.683C>A (p.Ser228Tyr)	ADAMTS18 (P55T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1105295	NM_199355.4(ADAMTS18):c.653C>G (p.Pro218Arg)	ADAMTS18 (P218R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 954210	NM_199355.4(ADAMTS18):c.626A>G (p.Glu209Gly)	ADAMTS18 (E209G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1940940	NM_199355.4(ADAMTS18):c.570C>G (p.Asn190Lys)	ADAMTS18 (N190K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269286	NM_199355.4(ADAMTS18):c.410A>G (p.Lys137Arg)	ADAMTS18 (K137R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516910	NM_199355.4(ADAMTS18):c.326A>G (p.His109Arg)	ADAMTS18 (H109R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1365550	NM_199355.4(ADAMTS18):c.266C>T (p.Ser89Leu)	ADAMTS18 (S89L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2603873	NM_199355.4(ADAMTS18):c.160G>A (p.Ala54Thr)	ADAMTS18 (A54T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 844270	NM_199355.4(ADAMTS18):c.56C>T (p.Pro19Leu)	ADAMTS18 (P19L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 78