ClinVar for Gene (Select 285148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285136	NM_001039613.3(IAH1):c.514G>A (p.Asp172Asn)	IAH1 (D172N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285135	NM_001039613.3(IAH1):c.300G>T (p.Gln100His)	IAH1 (Q100H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265507	NM_003183.6(ADAM17):c.2302A>G (p.Thr768Ala)	ADAM17, IAH1 (T548A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265496	NM_003183.6(ADAM17):c.1599G>C (p.Lys533Asn)	ADAM17, IAH1 (K533N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265480	NM_003183.6(ADAM17):c.1712G>A (p.Gly571Asp)	ADAM17, IAH1 (G571D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265471	NM_003183.6(ADAM17):c.1204G>A (p.Val402Ile)	ADAM17, IAH1 (V103I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
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 3107772	NM_001039613.3(IAH1):c.665C>T (p.Ser222Phe)	IAH1 (S197F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107771	NM_001039613.3(IAH1):c.5C>T (p.Ala2Val)	IAH1 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107770	NM_001039613.3(IAH1):c.590G>T (p.Gly197Val)	IAH1 (G197V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107769	NM_001039613.3(IAH1):c.518G>C (p.Cys173Ser)	IAH1 (C173S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107768	NM_001039613.3(IAH1):c.4G>A (p.Ala2Thr)	IAH1 (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107767	NM_001039613.3(IAH1):c.494C>A (p.Ala165Glu)	IAH1 (A140E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107766	NM_001039613.3(IAH1):c.409T>C (p.Cys137Arg)	IAH1 (C137R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068447	Single allele	ADAM17, CPSF3 +2 more	Deletion	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
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	IAH1, ADAM17	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=)	IAH1, ADAM17	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 2611508	NM_001039613.3(IAH1):c.595C>T (p.His199Tyr)	IAH1 (H199Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600907	NM_001039613.3(IAH1):c.94C>A (p.Gln32Lys)	IAH1 (Q32K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593555	NM_001039613.3(IAH1):c.712C>T (p.Pro238Ser)	IAH1 (P238S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538802	NM_001039613.3(IAH1):c.649G>A (p.Glu217Lys)	IAH1 (E104K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460863	NM_001039613.3(IAH1):c.95A>C (p.Gln32Pro)	IAH1 (Q32P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458362	NM_001039613.3(IAH1):c.154C>T (p.Arg52Cys)	IAH1 (R27C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426589	NC_000002.11:g.(?_7968276)_(10192634_?)dup	ADAM17, ASAP2 +10 more	Duplication	not provided	GUncertain significance
Select item 2426587	NC_000002.11:g.(?_7968276)_(10192634_?)del	ADAM17, ASAP2 +10 more	Deletion	not provided	GPathogenic
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 2408657	NM_001039613.3(IAH1):c.395C>T (p.Thr132Met)	IAH1 (T19M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393402	NM_001039613.3(IAH1):c.725T>C (p.Leu242Pro)	IAH1 (L129P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371793	NM_001039613.3(IAH1):c.322G>A (p.Ala108Thr)	IAH1 (A108T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352178	NM_001039613.3(IAH1):c.285T>A (p.Asp95Glu)	IAH1 (D70E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2221225	NM_001039613.3(IAH1):c.176C>T (p.Thr59Ile)	IAH1 (T59I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	ADAM17-related disorder +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)	ADAM17, IAH1 (T321A +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1 +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)	ADAM17, IAH1 (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

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