IAH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 3068447	Single allele	ADAM17, CPSF3 +2 more	Deletion	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1278966	NM_003183.6(ADAM17):c.*290A>G	ADAM17, IAH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1188895	NM_003183.6(ADAM17):c.*75G>A	ADAM17, IAH1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1188896	NM_003183.6(ADAM17):c.*61del	ADAM17, IAH1	Deletion (3 prime UTR variant)	not specified +2 more	GBenign
Select item 985574	NM_003183.6(ADAM17):c.2450_2471del (p.Val817fs)	ADAM17, IAH1 (V518fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 1011031	NM_003183.6(ADAM17):c.2464_2466dup (p.Thr822dup)	ADAM17, IAH1	Duplication (inframe_insertion)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1444188	NM_003183.6(ADAM17):c.2465_2466del (p.Thr822fs)	ADAM17, IAH1 (T523fs +2 more)	Deletion (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1417441	NM_003183.6(ADAM17):c.2452G>C (p.Asp818His)	ADAM17, IAH1 (D519H +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1475279	NM_003183.6(ADAM17):c.2445dup (p.Arg816fs)	ADAM17, IAH1 (R517fs +2 more)	Duplication (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 863551	NM_003183.6(ADAM17):c.2446C>T (p.Arg816Cys)	ADAM17, IAH1 (R816C)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1517794	NM_003183.6(ADAM17):c.2444A>G (p.Asn815Ser)	ADAM17, IAH1 (N516S +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 961964	NM_003183.6(ADAM17):c.2438G>A (p.Arg813His)	ADAM17, IAH1 (R593H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 658279	NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys)	IAH1, ADAM17 (R813C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1349212	NM_003183.6(ADAM17):c.2425T>C (p.Phe809Leu)	ADAM17, IAH1 (F809L +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1408478	NM_003183.6(ADAM17):c.2416G>T (p.Ala806Ser)	ADAM17, IAH1 (A586S +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 539948	NM_003183.6(ADAM17):c.2416G>C (p.Ala806Pro)	ADAM17, IAH1 (A806P)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1348830	NM_003183.6(ADAM17):c.2414dup (p.Ala806fs)	IAH1, ADAM17 (A586fs +2 more)	Duplication (frameshift 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 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 843944	NM_003183.6(ADAM17):c.2398G>T (p.Val800Phe)	ADAM17, IAH1 (V800F)	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 862057	NM_003183.6(ADAM17):c.2396C>T (p.Pro799Leu)	ADAM17, IAH1 (P799L)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
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 1348398	NM_003183.6(ADAM17):c.2389G>T (p.Asp797Tyr)	ADAM17, IAH1 (D577Y +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 718898	NM_003183.6(ADAM17):c.2388G>A (p.Thr796=)	IAH1, ADAM17	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
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 652205	NM_003183.6(ADAM17):c.2380G>A (p.Asp794Asn)	ADAM17, IAH1 (D794N)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
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 785748	NM_003183.6(ADAM17):c.2346C>T (p.Phe782=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GBenign
Select item 834970	NM_003183.6(ADAM17):c.2326G>A (p.Gly776Arg)	ADAM17, IAH1 (G776R)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 853870	NM_003183.6(ADAM17):c.2320G>A (p.Glu774Lys)	IAH1, ADAM17 (E774K)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1116178	NM_003183.6(ADAM17):c.2319C>T (p.Asp773=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	ADAM17-related disorder +1 more	GLikely benign
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 955729	NM_003183.6(ADAM17):c.2308T>C (p.Ser770Pro)	ADAM17, IAH1 (S770P +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 575937	NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn)	ADAM17, IAH1 (S767N)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1509627	NM_003183.6(ADAM17):c.2288A>G (p.Gln763Arg)	ADAM17, IAH1 (Q464R +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 862911	NM_003183.6(ADAM17):c.2284A>T (p.Ile762Phe)	ADAM17, IAH1 (I762F)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 732719	NM_003183.6(ADAM17):c.2280C>T (p.Asp760=)	ADAM17, IAH1	Single nucleotide variant (synonymous 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 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 1000663	NM_003183.6(ADAM17):c.2251G>C (p.Ala751Pro)	ADAM17, IAH1 (A452P +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1505445	NM_003183.6(ADAM17):c.2248G>A (p.Ala750Thr)	IAH1, ADAM17 (A530T +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 765083	NM_003183.6(ADAM17):c.2244G>A (p.Ala748=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 472726	NM_003183.6(ADAM17):c.2243C>T (p.Ala748Val)	ADAM17, IAH1 (A748V)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GBenign
Select item 848657	NM_003183.6(ADAM17):c.2242G>T (p.Ala748Ser)	IAH1, ADAM17 (A748S)	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 1166121	NM_003183.6(ADAM17):c.2240C>T (p.Ser747Leu)	ADAM17, IAH1 (S448L +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1 +1 more	GBenign/Likely benign
Select item 1514442	NM_003183.6(ADAM17):c.2237dup (p.Ser747fs)	ADAM17, IAH1 (S527fs +2 more)	Duplication (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
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 1045467	NM_003183.6(ADAM17):c.2224G>A (p.Ala742Thr)	ADAM17, IAH1 (A443T +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
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 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 1437601	NM_003183.6(ADAM17):c.2213G>A (p.Arg738His)	ADAM17, IAH1 (R518H +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 648768	NM_003183.6(ADAM17):c.2212C>T (p.Arg738Cys)	ADAM17, IAH1 (R738C)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 709541	NM_003183.6(ADAM17):c.2205T>G (p.Thr735=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 733560	NM_003183.6(ADAM17):c.2199C>G (p.Pro733=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GBenign
Select item 1137491	NM_003183.6(ADAM17):c.2196G>A (p.Ala732=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1470870	NM_003183.6(ADAM17):c.2195C>T (p.Ala732Val)	ADAM17, IAH1 (A433V +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1442087	NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser)	ADAM17, IAH1 (P432S +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 939993	NM_003183.6(ADAM17):c.2191C>G (p.Pro731Ala)	ADAM17, IAH1 (P511A +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1426260	NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu)	ADAM17, IAH1 (F431L +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 1006698	NM_003183.6(ADAM17):c.2169_2178del (p.Val724fs)	ADAM17, IAH1 (V425fs +2 more)	Deletion (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 946680	NM_003183.6(ADAM17):c.2174G>A (p.Arg725His)	ADAM17, IAH1 (R426H +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 951710	NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs)	ADAM17, IAH1 (R505fs +2 more)	Insertion (frameshift variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
Select item 743118	NM_003183.6(ADAM17):c.2169G>A (p.Ser723=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 720154	NM_003183.6(ADAM17):c.2169G>C (p.Ser723=)	ADAM17, IAH1	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 1	GLikely benign
Select item 1465751	NM_003183.6(ADAM17):c.2168C>T (p.Ser723Leu)	ADAM17, IAH1 (S503L +2 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 1	GUncertain significance
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 1142638	NM_003183.6(ADAM17):c.2139C>T (p.Val713=)	ADAM17, IAH1	Single nucleotide variant (synonymous 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

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