Related gene-specific medical variations for Gene (Select 285148) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 263

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144291	NM_003183.6(ADAM17):c.2405G>C (p.Arg802Thr)	ADAM17, IAH1 (R802T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057915	NM_003183.6(ADAM17):c.1992T>C (p.Phe664=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	ADAM17-related disorder	GLikely benign
Select item 3015005	NM_003183.6(ADAM17):c.1845C>T (p.Val615=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 3012140	NM_003183.6(ADAM17):c.2256A>C (p.Pro752=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 3008861	NM_003183.6(ADAM17):c.1908C>T (p.Asp636=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2996313	NM_003183.6(ADAM17):c.1695T>A (p.Thr565=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2978930	NM_003183.6(ADAM17):c.1915-9del	ADAM17, IAH1	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GBenign
Select item 2975710	NM_003183.6(ADAM17):c.1649-4C>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2975709	NM_003183.6(ADAM17):c.1649-3del	ADAM17, IAH1	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2969490	NM_003183.6(ADAM17):c.1239A>T (p.Ala413=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2963055	NM_003183.6(ADAM17):c.1521G>A (p.Thr507=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2957973	NM_003183.6(ADAM17):c.2133+8T>C	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2918059	NM_003183.6(ADAM17):c.1192-12A>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2917158	NM_003183.6(ADAM17):c.1844T>G (p.Val615Gly)	ADAM17, IAH1 (V316G +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2914889	NM_003183.6(ADAM17):c.2241G>A (p.Ser747=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2911299	NM_003183.6(ADAM17):c.1980C>T (p.Ser660=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2909983	NM_003183.6(ADAM17):c.1784-17C>T	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2899458	NM_003183.6(ADAM17):c.1914+13G>T	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2892123	NM_003183.6(ADAM17):c.1971C>T (p.Asp657=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2872059	NM_003183.6(ADAM17):c.1284C>T (p.Asp428=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2871646	NM_003183.6(ADAM17):c.1251G>A (p.Pro417=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2852079	NM_003183.6(ADAM17):c.1701C>T (p.Cys567=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2842533	NM_003183.6(ADAM17):c.1192-14G>T	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2832215	NM_003183.6(ADAM17):c.1230T>C (p.Asn410=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2831726	NM_003183.6(ADAM17):c.1344+1G>T	ADAM17, IAH1	Single nucleotide variant (splice donor variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely pathogenic
Select item 2825180	NM_003183.6(ADAM17):c.1735A>C (p.Ile579Leu)	ADAM17, IAH1 (I280L +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2824183	NM_003183.6(ADAM17):c.1914+12T>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2794842	NM_003183.6(ADAM17):c.2049T>C (p.Phe683=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2768127	NM_003183.6(ADAM17):c.2083-12_2083-11del	ADAM17, IAH1	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2755534	NM_003183.6(ADAM17):c.2268C>G (p.His756Gln)	ADAM17, IAH1 (H457Q +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2745572	NM_003183.6(ADAM17):c.1305_1306del (p.Met435fs)	ADAM17, IAH1 (M136fs +2 more)	Deletion (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GPathogenic
Select item 2743300	NM_003183.6(ADAM17):c.1530A>G (p.Glu510=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2694856	NM_003183.6(ADAM17):c.1477A>G (p.Ile493Val)	ADAM17, IAH1 (I194V +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2650666	NM_003183.6(ADAM17):c.2106T>C (p.Tyr702=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621034	NM_003183.6(ADAM17):c.2047T>C (p.Phe683Leu)	ADAM17, IAH1 (F683L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2420385	NM_003183.6(ADAM17):c.1915-21ATGT[3]	ADAM17, IAH1	Microsatellite (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2420118	NM_003183.6(ADAM17):c.2227C>G (p.Pro743Ala)	ADAM17, IAH1 (P444A +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2326232	NM_003183.6(ADAM17):c.1512C>G (p.Ser504Arg)	ADAM17, IAH1 (S284R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191890	NM_003183.6(ADAM17):c.1839C>T (p.Pro613=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2163951	NM_003183.6(ADAM17):c.2121G>C (p.Leu707=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2161806	NM_003183.6(ADAM17):c.1784-20A>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2143244	NM_003183.6(ADAM17):c.1846G>A (p.Asp616Asn)	ADAM17, IAH1 (D317N +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2140650	NM_003183.6(ADAM17):c.2397G>A (p.Pro799=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2139856	NM_003183.6(ADAM17):c.1995A>T (p.Gly665=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2127739	NM_003183.6(ADAM17):c.2411A>G (p.Glu804Gly)	ADAM17, IAH1 (E505G +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2113619	NM_003183.6(ADAM17):c.1965C>A (p.Phe655Leu)	ADAM17, IAH1 (F356L +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GUncertain significance
Select item 2107824	NM_003183.6(ADAM17):c.1344+12T>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2101430	NM_003183.6(ADAM17):c.1544+2T>C	ADAM17, IAH1	Single nucleotide variant (splice donor variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely pathogenic
Select item 2096328	NM_003183.6(ADAM17):c.1914+14T>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2084371	NM_003183.6(ADAM17):c.1621A>G (p.Thr541Ala)	IAH1, ADAM17 (T321A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2083915	NM_003183.6(ADAM17):c.1915-17_1915-14del	ADAM17, IAH1	Microsatellite (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2082444	NM_003183.6(ADAM17):c.2082+4A>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2082241	NM_003183.6(ADAM17):c.1860G>T (p.Lys620Asn)	ADAM17, IAH1 (K321N +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2081020	NM_003183.6(ADAM17):c.1494C>T (p.Asn498=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2080743	NM_003183.6(ADAM17):c.1754A>T (p.Glu585Val)	ADAM17, IAH1 (E286V +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2079089	NM_003183.6(ADAM17):c.1418G>A (p.Arg473His)	ADAM17, IAH1 (R174H +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2077202	NM_003183.6(ADAM17):c.2383C>G (p.Leu795Val)	ADAM17, IAH1 (L496V +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2074440	NM_003183.6(ADAM17):c.1784-16G>A	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2064018	NM_003183.6(ADAM17):c.1902T>C (p.Phe634=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2056475	NM_003183.6(ADAM17):c.1568A>C (p.Lys523Thr)	IAH1, ADAM17 (K303T +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2055327	NM_003183.6(ADAM17):c.2219_2220delinsCA (p.Gln740Pro)	ADAM17, IAH1 (Q520P +2 more)	Indel (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2043531	NM_003183.6(ADAM17):c.2083-18_2083-16del	ADAM17, IAH1	Microsatellite (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2036381	NM_003183.6(ADAM17):c.1192-20T>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 2015760	NM_003183.6(ADAM17):c.1300G>A (p.Val434Ile)	ADAM17, IAH1 (V214I +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 2009498	NM_003183.6(ADAM17):c.2025T>C (p.Ser675=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1996328	NM_003183.6(ADAM17):c.2122T>C (p.Phe708Leu)	ADAM17, IAH1 (F488L +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1992062	NM_003183.6(ADAM17):c.1696G>T (p.Val566Phe)	ADAM17, IAH1 (V346F +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1985053	NM_003183.6(ADAM17):c.1915-15_1915-14insA	ADAM17, IAH1	Insertion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1981999	NM_003183.6(ADAM17):c.2136C>T (p.Asn712=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1977072	NM_003183.6(ADAM17):c.1401G>A (p.Gln467=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1972786	NM_003183.6(ADAM17):c.1677A>C (p.Gly559=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1969058	NM_003183.6(ADAM17):c.2019T>C (p.Val673=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1927864	NM_003183.6(ADAM17):c.2113_2114del (p.Leu705fs)	ADAM17, IAH1 (L406fs +2 more)	Microsatellite (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1925904	NM_003183.6(ADAM17):c.1573dup (p.Cys525fs)	ADAM17, IAH1 (C525fs +2 more)	Duplication (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GPathogenic
Select item 1915254	NM_003183.6(ADAM17):c.2308_2309del (p.Ser770fs)	ADAM17, IAH1 (S550fs +2 more)	Deletion (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1908951	NM_003183.6(ADAM17):c.1951C>T (p.Arg651Ter)	ADAM17, IAH1 (R651* +2 more)	Single nucleotide variant (nonsense)	Inflammatory skin and bowel disease, neonatal, 1	GPathogenic
Select item 1908783	NM_003183.6(ADAM17):c.1631G>C (p.Gly544Ala)	ADAM17, IAH1 (G245A +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1896181	NM_003183.6(ADAM17):c.2082+12A>C	IAH1, ADAM17	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1705353	NM_003183.6(ADAM17):c.1344+1G>A	ADAM17, IAH1	Single nucleotide variant (splice donor variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely pathogenic
Select item 1676227	NM_003183.6(ADAM17):c.2390del (p.Asp797fs)	IAH1, ADAM17 (D498fs +2 more)	Deletion (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1672970	NM_003183.6(ADAM17):c.2028C>T (p.Val676=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1671160	NM_003183.6(ADAM17):c.2133+9A>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1663848	NM_003183.6(ADAM17):c.2134-23_2134-20del	ADAM17, IAH1	Microsatellite (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1661841	NM_003183.6(ADAM17):c.2133+7A>G	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1648867	NM_003183.6(ADAM17):c.2166A>G (p.Ala722=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1633080	NM_003183.6(ADAM17):c.1544+15C>T	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GBenign
Select item 1625010	NM_003183.6(ADAM17):c.1365A>G (p.Lys455=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1624337	NM_003183.6(ADAM17):c.1784-19del	ADAM17, IAH1	Deletion (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1623807	NM_003183.6(ADAM17):c.1833T>C (p.Cys611=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GBenign
Select item 1620177	NM_003183.6(ADAM17):c.1572C>T (p.Asn524=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1611518	NM_003183.6(ADAM17):c.2083-12G>C	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1596193	NM_003183.6(ADAM17):c.1344+14G>A	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1587558	NM_003183.6(ADAM17):c.2134-27CAAT[3]	ADAM17, IAH1	Microsatellite (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1586358	NM_003183.6(ADAM17):c.1344+13C>T	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1555664	NM_003183.6(ADAM17):c.2133+13T>C	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1555128	NM_003183.6(ADAM17):c.2127C>T (p.His709=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1555067	NM_003183.6(ADAM17):c.2358C>T (p.Ser786=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1554644	NM_003183.6(ADAM17):c.1545-14C>A	ADAM17, IAH1	Single nucleotide variant (intron variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1549449	NM_003183.6(ADAM17):c.2223T>C (p.Pro741=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1544802	NM_003183.6(ADAM17):c.2031G>A (p.Leu677=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign

<< First< Prev

Page of 3