IGSF3[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 2487336	NM_001007237.3(IGSF3):c.3454C>T (p.Arg1152Trp)	IGSF3 (R1152W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257107	NM_001007237.3(IGSF3):c.3431T>A (p.Ile1144Asn)	IGSF3 (I1144N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314456	NM_001007237.3(IGSF3):c.3427A>G (p.Thr1143Ala)	IGSF3 (T1163A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515525	NM_001007237.3(IGSF3):c.3370G>A (p.Ala1124Thr)	IGSF3 (A1124T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342496	NM_001007237.3(IGSF3):c.3305C>T (p.Ala1102Val)	IGSF3 (A1102V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570156	NM_001007237.3(IGSF3):c.3300G>C (p.Glu1100Asp)	IGSF3 (E1100D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039985	NM_001007237.3(IGSF3):c.3243T>C (p.His1081=)	IGSF3	Single nucleotide variant (synonymous variant)	IGSF3-related condition	GLikely benign
Select item 3061000	NM_001007237.3(IGSF3):c.3218A>G (p.Gln1073Arg)	IGSF3 (Q1073R +1 more)	Single nucleotide variant (missense variant)	IGSF3-related condition	GBenign
Select item 2361948	NM_001007237.3(IGSF3):c.3076G>A (p.Asp1026Asn)	IGSF3 (D1046N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046067	NM_001007237.3(IGSF3):c.3069_3070insAAC (p.Asp1023_Asp1024insAsn)	IGSF3	Insertion (inframe insertion)	IGSF3-related condition	GBenign
Select item 3041771	NM_001007237.3(IGSF3):c.3063C>G (p.Asp1021Glu)	IGSF3 (D1021E +1 more)	Single nucleotide variant (missense variant)	IGSF3-related condition	GBenign
Select item 1678181	NM_001007237.3(IGSF3):c.3063del (p.Asp1021fs)	IGSF3 (D1021fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 769242	NM_001007237.3(IGSF3):c.3060C>G (p.Asp1020Glu)	IGSF3 (D1020E +1 more)	Single nucleotide variant (missense variant)	IGSF3-related condition +1 more	GBenign
Select item 2495696	NM_001007237.3(IGSF3):c.3016C>G (p.Leu1006Val)	IGSF3 (L1026V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033896	NM_001007237.3(IGSF3):c.2993G>C (p.Gly998Ala)	IGSF3 (G1018A +1 more)	Single nucleotide variant (missense variant)	IGSF3-related condition	GBenign
Select item 2284414	NM_001007237.3(IGSF3):c.2981G>A (p.Arg994Lys)	IGSF3 (R1014K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306853	NM_001007237.3(IGSF3):c.2959G>T (p.Ala987Ser)	IGSF3 (A1007S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 162496	NM_001007237.3(IGSF3):c.2935del (p.Arg979fs)	IGSF3 (R979fs +1 more)	Deletion (frameshift variant)	Familial congenital nasolacrimal duct obstruction	GPathogenic
Select item 2593349	NM_001007237.3(IGSF3):c.2882A>G (p.Asn961Ser)	IGSF3 (N981S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049509	NM_001007237.3(IGSF3):c.2814C>G (p.Thr938=)	IGSF3	Single nucleotide variant (synonymous variant)	IGSF3-related condition	GLikely benign
Select item 2494662	NM_001007237.3(IGSF3):c.2732A>C (p.Gln911Pro)	IGSF3 (Q911P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234851	NM_001007237.3(IGSF3):c.2704C>A (p.Arg902Ser)	IGSF3 (R922S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402968	NM_001007237.3(IGSF3):c.2698G>A (p.Val900Met)	IGSF3 (V920M +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2402980	NM_001007237.3(IGSF3):c.2695G>A (p.Gly899Ser)	IGSF3 (G919S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053000	NM_001007237.3(IGSF3):c.2694C>T (p.Pro898=)	IGSF3	Single nucleotide variant (synonymous variant)	IGSF3-related condition	GLikely benign
Select item 2266455	NM_001007237.3(IGSF3):c.2620G>A (p.Ala874Thr)	IGSF3 (A874T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369259	NM_001007237.3(IGSF3):c.2606G>A (p.Arg869His)	IGSF3 (R889H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316702	NM_001007237.3(IGSF3):c.2582A>T (p.His861Leu)	IGSF3 (H861L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639022	NM_001007237.3(IGSF3):c.2574G>A (p.Lys858=)	IGSF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547119	NM_001007237.3(IGSF3):c.2566G>A (p.Val856Ile)	IGSF3 (V856I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718974	NM_001007237.3(IGSF3):c.2550C>A (p.Leu850=)	IGSF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039501	NM_001007237.3(IGSF3):c.2471G>A (p.Gly824Glu)	IGSF3 (G824E +1 more)	Single nucleotide variant (missense variant)	IGSF3-related condition	GBenign
Select item 2595928	NM_001007237.3(IGSF3):c.2460C>G (p.Ser820Arg)	IGSF3 (S820R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471188	NM_001007237.3(IGSF3):c.2414G>A (p.Arg805His)	IGSF3 (R805H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550489	NM_001007237.3(IGSF3):c.2348A>T (p.His783Leu)	IGSF3 (H803L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207390	NM_001007237.3(IGSF3):c.2317G>A (p.Glu773Lys)	IGSF3 (E773K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801785	NM_001007237.3(IGSF3):c.2179G>A (p.Gly727Ser)	IGSF3 (G727S +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2301026	NM_001007237.3(IGSF3):c.2075T>C (p.Val692Ala)	IGSF3 (V692A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522174	NM_001007237.3(IGSF3):c.1952G>A (p.Arg651Gln)	IGSF3 (R671Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346582	NM_001007237.3(IGSF3):c.1901G>A (p.Arg634Gln)	IGSF3 (R634Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691355	NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu)	IGSF3 (R614L +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 2344567	NM_001007237.3(IGSF3):c.1804G>A (p.Gly602Arg)	IGSF3 (G622R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390588	NM_001007237.3(IGSF3):c.1799G>A (p.Arg600Gln)	IGSF3 (R600Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313645	NM_001007237.3(IGSF3):c.1765A>C (p.Thr589Pro)	IGSF3 (T589P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722600	NM_001007237.3(IGSF3):c.1757C>T (p.Pro586Leu)	IGSF3 (P586L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 391629	NM_001007237.3(IGSF3):c.1747C>T (p.Arg583Trp)	IGSF3 (R603W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 915339	NM_001007237.3(IGSF3):c.1724G>A (p.Trp575Ter)	IGSF3 (W595* +1 more)	Single nucleotide variant (nonsense)	Familial congenital nasolacrimal duct obstruction +1 more	GPathogenic/Likely pathogenic
Select item 2611277	NM_001007237.3(IGSF3):c.1682C>A (p.Ser561Tyr)	IGSF3 (S581Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594547	NM_001007237.3(IGSF3):c.1678G>A (p.Asp560Asn)	IGSF3 (D580N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274266	NM_001007237.3(IGSF3):c.1628T>C (p.Met543Thr)	IGSF3 (M563T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2235012	NM_001007237.3(IGSF3):c.1618G>A (p.Ala540Thr)	IGSF3 (A540T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639023	NM_001007237.3(IGSF3):c.1494C>T (p.Ile498=)	IGSF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2345094	NM_001007237.3(IGSF3):c.1450G>A (p.Val484Ile)	IGSF3 (V504I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2294716	NM_001007237.3(IGSF3):c.1328G>A (p.Arg443His)	IGSF3 (R463H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375695	NM_001007237.3(IGSF3):c.1286G>A (p.Arg429His)	IGSF3 (R429H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2639024	NM_001007237.3(IGSF3):c.1100G>T (p.Arg367Leu)	IGSF3 (R367L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395894	NM_001007237.3(IGSF3):c.1099C>T (p.Arg367Cys)	IGSF3 (R367C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284820	NM_001007237.3(IGSF3):c.1097T>A (p.Leu366His)	IGSF3 (L366H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298083	NM_001007237.3(IGSF3):c.1093C>T (p.His365Tyr)	IGSF3 (H365Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532488	NM_001007237.3(IGSF3):c.1087A>T (p.Ile363Phe)	IGSF3 (I363F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365710	NM_001007237.3(IGSF3):c.931G>A (p.Asp311Asn)	IGSF3 (D311N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718975	NM_001007237.3(IGSF3):c.930C>T (p.Pro310=)	IGSF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558939	NM_001007237.3(IGSF3):c.878C>T (p.Thr293Met)	IGSF3 (T293M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717892	NM_001007237.3(IGSF3):c.868C>A (p.Arg290=)	IGSF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2459618	NM_001007237.3(IGSF3):c.847G>A (p.Val283Ile)	IGSF3 (V283I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412166	NM_001007237.3(IGSF3):c.797G>A (p.Arg266His)	IGSF3 (R266H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486762	NM_001007237.3(IGSF3):c.748G>A (p.Glu250Lys)	IGSF3 (E250K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639025	NM_001007237.3(IGSF3):c.727G>A (p.Glu243Lys)	IGSF3 (E243K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2602113	NM_001007237.3(IGSF3):c.711G>C (p.Gln237His)	IGSF3 (Q237H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389397	NM_001007237.3(IGSF3):c.554G>T (p.Arg185Leu)	IGSF3 (R185L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553597	NM_001007237.3(IGSF3):c.466C>T (p.His156Tyr)	IGSF3 (H156Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214857	NM_001007237.3(IGSF3):c.464T>C (p.Leu155Pro)	IGSF3 (L155P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639026	NM_001007237.3(IGSF3):c.345C>T (p.Ala115=)	IGSF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639027	NM_001007237.3(IGSF3):c.300G>A (p.Gly100=)	IGSF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257326	NM_001007237.3(IGSF3):c.265C>T (p.Arg89Cys)	IGSF3 (R89C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518891	NM_001007237.3(IGSF3):c.211A>G (p.Ile71Val)	IGSF3 (I71V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595927	NM_001007237.3(IGSF3):c.137G>A (p.Gly46Asp)	IGSF3 (G46D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222868	NM_001007237.3(IGSF3):c.128A>G (p.Asn43Ser)	IGSF3 (N43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207994	NM_001007237.3(IGSF3):c.118A>G (p.Ile40Val)	IGSF3 (I40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553253	NM_001007237.3(IGSF3):c.116C>T (p.Thr39Ile)	IGSF3 (T39I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254974	NM_001007237.3(IGSF3):c.17C>T (p.Pro6Leu)	IGSF3 (P6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 565143	GRCh37/hg19 1p13.1(chr1:117180331-117489298)x1	IGSF3, PTGFRN +1 more	Copy number loss	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 90