ADAM17[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1234969	NM_003183.6(ADAM17):c.1191+233G>A	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267542	NM_003183.6(ADAM17):c.1191+203T>C	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243758	NM_003183.6(ADAM17):c.1191+83T>A	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2151771	NM_003183.6(ADAM17):c.1191+20A>G	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1115158	NM_003183.6(ADAM17):c.1191+8_1191+20del	ADAM17	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 3014358	NM_003183.6(ADAM17):c.1191+19A>G	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1538256	NM_003183.6(ADAM17):c.1191+8C>T	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2812323	NM_003183.6(ADAM17):c.1151del (p.Gly383_Leu384insTer)	ADAM17	Deletion (nonsense)	Inflammatory skin and bowel disease, neonatal, 1	GPathogenic
Select item 2075422	NM_003183.6(ADAM17):c.1146T>C (p.Ser382=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2100778	NM_003183.6(ADAM17):c.1143T>C (p.Asn381=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1345094	NM_003183.6(ADAM17):c.1139T>C (p.Leu380Ser)	ADAM17 (L160S +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1975001	NM_003183.6(ADAM17):c.1133T>A (p.Ile378Asn)	ADAM17 (I79N +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 964276	NM_003183.6(ADAM17):c.1132A>G (p.Ile378Val)	ADAM17 (I158V +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1537577	NM_003183.6(ADAM17):c.1131T>C (p.Asn377=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 636649	NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg)	ADAM17 (G374R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2016550	NM_003183.6(ADAM17):c.1118T>G (p.Val373Gly)	ADAM17 (V373G +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1364263	NM_003183.6(ADAM17):c.1118T>A (p.Val373Asp)	ADAM17 (V153D +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 956810	NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala)	ADAM17 (P372A +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1985930	NM_003183.6(ADAM17):c.1110T>C (p.Tyr370=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2150099	NM_003183.6(ADAM17):c.1103-12T>C	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2912943	NM_003183.6(ADAM17):c.1103-20_1103-19del	ADAM17	Microsatellite (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1719151	NM_003183.6(ADAM17):c.1093T>G (p.Cys365Gly)	ADAM17 (C145G +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1628730	NM_003183.6(ADAM17):c.1083T>C (p.His361=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 843333	NM_003183.6(ADAM17):c.1081C>T (p.His361Tyr)	ADAM17 (H361Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3265466	NM_003183.6(ADAM17):c.1076A>G (p.Asn359Ser)	ADAM17 (N139S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1134890	NM_003183.6(ADAM17):c.1068C>T (p.Pro356=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1042226	NM_003183.6(ADAM17):c.1066C>T (p.Pro356Ser)	ADAM17 (P136S +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GUncertain significance
Select item 2077812	NM_003183.6(ADAM17):c.1055A>G (p.Tyr352Cys)	ADAM17 (Y352C +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1414150	NM_003183.6(ADAM17):c.1034T>C (p.Met345Thr)	ADAM17 (M125T +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2830713	NM_003183.6(ADAM17):c.1015dup (p.Thr339fs)	ADAM17 (T119fs +2 more)	Duplication (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GPathogenic
Select item 2830714	NM_003183.6(ADAM17):c.1014C>T (p.Phe338=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1459451	NM_003183.6(ADAM17):c.987_988dup (p.Ser330fs)	ADAM17 (S31fs +2 more)	Duplication (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GPathogenic
Select item 1466360	NM_003183.6(ADAM17):c.980A>G (p.Glu327Gly)	ADAM17 (E107G +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1044590	NM_003183.6(ADAM17):c.975A>G (p.Ile325Met)	ADAM17 (I26M +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 735589	NM_003183.6(ADAM17):c.958-5C>A	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GLikely benign
Select item 1614874	NM_003183.6(ADAM17):c.958-8T>G	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 3033445	NM_003183.6(ADAM17):c.958-9C>G	ADAM17	Single nucleotide variant (intron variant)	ADAM17-related disorder	GLikely benign
Select item 774593	NM_003183.6(ADAM17):c.958-9C>T	ADAM17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566283	NM_003183.6(ADAM17):c.958-13_958-12insTG	ADAM17	Insertion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1271574	NM_003183.6(ADAM17):c.958-34dup	ADAM17	Duplication (intron variant)	not provided +1 more	GBenign
Select item 2167338	NM_003183.6(ADAM17):c.958-26_958-13del	ADAM17	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1647414	NM_003183.6(ADAM17):c.958-23_958-13del	ADAM17	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1546488	NM_003183.6(ADAM17):c.958-24_958-13del	ADAM17	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1290044	NM_003183.6(ADAM17):c.958-13del	ADAM17	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1254986	NM_003183.6(ADAM17):c.958-14_958-13del	ADAM17	Deletion (intron variant)	not provided	GBenign
Select item 1239256	NM_003183.6(ADAM17):c.958-15_958-13del	ADAM17	Deletion (intron variant)	not provided	GBenign
Select item 1140582	NM_003183.6(ADAM17):c.958-25_958-13del	ADAM17	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1280331	NM_003183.6(ADAM17):c.957+284T>G	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272401	NM_003183.6(ADAM17):c.957+278A>G	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291271	NM_003183.6(ADAM17):c.957+274G>T	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280139	NM_003183.6(ADAM17):c.957+265T>A	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236118	NM_003183.6(ADAM17):c.957+260T>C	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182143	NM_003183.6(ADAM17):c.957+252A>G	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286871	NM_003183.6(ADAM17):c.957+249T>C	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263759	NM_003183.6(ADAM17):c.957+244A>G	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263774	NM_003183.6(ADAM17):c.957+148A>G	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1593643	NM_003183.6(ADAM17):c.957+15C>G	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1468269	NM_003183.6(ADAM17):c.948G>A (p.Met316Ile)	ADAM17 (M17I +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2617332	NM_003183.6(ADAM17):c.946A>T (p.Met316Leu)	ADAM17 (M17L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 861326	NM_003183.6(ADAM17):c.944A>G (p.Lys315Arg)	ADAM17 (K315R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2188485	NM_003183.6(ADAM17):c.903A>G (p.Ala301=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1934340	NM_003183.6(ADAM17):c.888G>A (p.Lys296=)	ADAM17	Single nucleotide variant (synonymous variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2096727	NM_003183.6(ADAM17):c.873A>G (p.Val291=)	ADAM17	Single nucleotide variant (synonymous variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2958885	NM_003183.6(ADAM17):c.870G>A (p.Glu290=)	ADAM17	Single nucleotide variant (synonymous variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2166314	NM_003183.6(ADAM17):c.869A>G (p.Glu290Gly)	ADAM17 (E70G +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 472730	NM_003183.6(ADAM17):c.867A>G (p.Gln289=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 997097	NM_003183.6(ADAM17):c.851T>C (p.Ile284Thr)	ADAM17 (I284T +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GConflicting classifications of pathogenicity
Select item 221955	NM_003183.6(ADAM17):c.847C>T (p.Arg283Cys)	ADAM17 (R283C)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2713654	NM_003183.6(ADAM17):c.844-4A>G	ADAM17	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 539951	NM_003183.6(ADAM17):c.844-5T>C	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GBenign
Select item 2098420	NM_003183.6(ADAM17):c.844-6G>A	ADAM17	Single nucleotide variant (intron variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1545764	NM_003183.6(ADAM17):c.844-17_844-16delinsTT	ADAM17	Indel (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1236036	NM_003183.6(ADAM17):c.844-144G>A	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248827	NM_003183.6(ADAM17):c.844-330C>T	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2782563	NM_003183.6(ADAM17):c.843+15A>T	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2700000	NM_003183.6(ADAM17):c.843+11A>G	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2825104	NM_003183.6(ADAM17):c.843+10A>T	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1081657	NM_003183.6(ADAM17):c.807T>C (p.Asn269=)	ADAM17	Single nucleotide variant (synonymous variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1017252	NM_003183.6(ADAM17):c.796T>C (p.Ser266Pro)	ADAM17 (S266P +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2282613	NM_003183.6(ADAM17):c.794C>G (p.Thr265Ser)	ADAM17 (T45S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276121	NM_003183.6(ADAM17):c.787C>T (p.Arg263Trp)	ADAM17 (R43W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 837367	NM_003183.6(ADAM17):c.785A>G (p.Tyr262Cys)	ADAM17 (Y262C)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 472729	NM_003183.6(ADAM17):c.777T>C (p.Asp259=)	ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 841335	NM_003183.6(ADAM17):c.773T>C (p.Val258Ala)	ADAM17 (V258A)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1402141	NM_003183.6(ADAM17):c.768C>A (p.Asp256Glu)	ADAM17 (D256E +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1061307	NM_003183.6(ADAM17):c.764T>C (p.Ile255Thr)	ADAM17 (I255T +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2767335	NC_000002.12:g.9523337_9523340del	ADAM17	Deletion	Inflammatory skin and bowel disease, neonatal, 1	GPathogenic
Select item 1617616	NM_003183.6(ADAM17):c.754-4A>G	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 644922	NM_003183.6(ADAM17):c.754-6A>G	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2091727	NM_003183.6(ADAM17):c.754-20T>C	ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1609871	NM_003183.6(ADAM17):c.754-21_754-20del	ADAM17	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1270113	NM_003183.6(ADAM17):c.754-293G>A	ADAM17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1404978	NM_003183.6(ADAM17):c.738_740del (p.Thr248del)	ADAM17 (T248del +1 more)	Deletion (inframe_deletion +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2272032	NM_003183.6(ADAM17):c.727G>A (p.Glu243Lys)	ADAM17 (E243K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 472728	NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu)	ADAM17 (F235L)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2810364	NM_003183.6(ADAM17):c.678A>G (p.Lys226=)	ADAM17	Single nucleotide variant (synonymous variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1595222	NM_003183.6(ADAM17):c.672G>T (p.Thr224=)	ADAM17	Single nucleotide variant (synonymous variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1542074	NM_003183.6(ADAM17):c.672G>A (p.Thr224=)	ADAM17	Single nucleotide variant (synonymous variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1351001	NM_003183.6(ADAM17):c.671C>T (p.Thr224Met)	ADAM17 (T4M +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1488820	NM_003183.6(ADAM17):c.668A>G (p.Asn223Ser)	ADAM17 (N223S +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance

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