IGSF3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108905	NM_001007237.3(IGSF3):c.3569C>G (p.Pro1190Arg)	IGSF3 (P1190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487336	NM_001007237.3(IGSF3):c.3454C>T (p.Arg1152Trp)	IGSF3 (R1152W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257107	NM_001007237.3(IGSF3):c.3431T>A (p.Ile1144Asn)	IGSF3 (I1144N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314456	NM_001007237.3(IGSF3):c.3427A>G (p.Thr1143Ala)	IGSF3 (T1163A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515525	NM_001007237.3(IGSF3):c.3370G>A (p.Ala1124Thr)	IGSF3 (A1124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108904	NM_001007237.3(IGSF3):c.3365A>G (p.Asn1122Ser)	IGSF3 (N1142S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108903	NM_001007237.3(IGSF3):c.3320G>A (p.Arg1107His)	IGSF3 (R1107H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108902	NM_001007237.3(IGSF3):c.3319C>T (p.Arg1107Cys)	IGSF3 (R1127C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342496	NM_001007237.3(IGSF3):c.3305C>T (p.Ala1102Val)	IGSF3 (A1102V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570156	NM_001007237.3(IGSF3):c.3300G>C (p.Glu1100Asp)	IGSF3 (E1100D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039985	NM_001007237.3(IGSF3):c.3243T>C (p.His1081=)	IGSF3	Single nucleotide variant (synonymous variant)	IGSF3-related disorder	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 disorder	GBenign
Select item 2361948	NM_001007237.3(IGSF3):c.3076G>A (p.Asp1026Asn)	IGSF3 (D1046N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046067	NM_001007237.3(IGSF3):c.3069_3070insAAC (p.Asp1023_Asp1024insAsn)	IGSF3	Insertion (inframe insertion)	IGSF3-related disorder	GBenign
Select item 3108901	NM_001007237.3(IGSF3):c.3064G>A (p.Asp1022Asn)	IGSF3 (D1022N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041771	NM_001007237.3(IGSF3):c.3063C>G (p.Asp1021Glu)	IGSF3 (D1021E +1 more)	Single nucleotide variant (missense variant)	IGSF3-related disorder	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 disorder +1 more	GBenign
Select item 3108899	NM_001007237.3(IGSF3):c.3045G>C (p.Glu1015Asp)	IGSF3 (E1035D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495696	NM_001007237.3(IGSF3):c.3016C>G (p.Leu1006Val)	IGSF3 (L1026V +1 more)	Single nucleotide variant (missense variant)	not specified	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 disorder	GBenign
Select item 2284414	NM_001007237.3(IGSF3):c.2981G>A (p.Arg994Lys)	IGSF3 (R1014K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306853	NM_001007237.3(IGSF3):c.2959G>T (p.Ala987Ser)	IGSF3 (A1007S +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3049509	NM_001007237.3(IGSF3):c.2814C>G (p.Thr938=)	IGSF3	Single nucleotide variant (synonymous variant)	IGSF3-related disorder	GLikely benign
Select item 2494662	NM_001007237.3(IGSF3):c.2732A>C (p.Gln911Pro)	IGSF3 (Q911P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234851	NM_001007237.3(IGSF3):c.2704C>A (p.Arg902Ser)	IGSF3 (R922S +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3053000	NM_001007237.3(IGSF3):c.2694C>T (p.Pro898=)	IGSF3	Single nucleotide variant (synonymous variant)	IGSF3-related disorder	GLikely benign
Select item 2266455	NM_001007237.3(IGSF3):c.2620G>A (p.Ala874Thr)	IGSF3 (A874T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369259	NM_001007237.3(IGSF3):c.2606G>A (p.Arg869His)	IGSF3 (R889H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108896	NM_001007237.3(IGSF3):c.2590C>T (p.Arg864Trp)	IGSF3 (R884W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316702	NM_001007237.3(IGSF3):c.2582A>T (p.His861Leu)	IGSF3 (H861L +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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 disorder	GBenign
Select item 2595928	NM_001007237.3(IGSF3):c.2460C>G (p.Ser820Arg)	IGSF3 (S820R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471188	NM_001007237.3(IGSF3):c.2414G>A (p.Arg805His)	IGSF3 (R805H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550489	NM_001007237.3(IGSF3):c.2348A>T (p.His783Leu)	IGSF3 (H803L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207390	NM_001007237.3(IGSF3):c.2317G>A (p.Glu773Lys)	IGSF3 (E773K +1 more)	Single nucleotide variant (missense variant)	not specified	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 3108894	NM_001007237.3(IGSF3):c.2173G>A (p.Ala725Thr)	IGSF3 (A725T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301026	NM_001007237.3(IGSF3):c.2075T>C (p.Val692Ala)	IGSF3 (V692A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108893	NM_001007237.3(IGSF3):c.2061G>C (p.Arg687Ser)	IGSF3 (R687S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522174	NM_001007237.3(IGSF3):c.1952G>A (p.Arg651Gln)	IGSF3 (R671Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346582	NM_001007237.3(IGSF3):c.1901G>A (p.Arg634Gln)	IGSF3 (R634Q +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2390588	NM_001007237.3(IGSF3):c.1799G>A (p.Arg600Gln)	IGSF3 (R600Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108891	NM_001007237.3(IGSF3):c.1798C>T (p.Arg600Trp)	IGSF3 (R600W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313645	NM_001007237.3(IGSF3):c.1765A>C (p.Thr589Pro)	IGSF3 (T589P +1 more)	Single nucleotide variant (missense variant)	not specified	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 3108890	NM_001007237.3(IGSF3):c.1682C>T (p.Ser561Phe)	IGSF3 (S581F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611277	NM_001007237.3(IGSF3):c.1682C>A (p.Ser561Tyr)	IGSF3 (S581Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594547	NM_001007237.3(IGSF3):c.1678G>A (p.Asp560Asn)	IGSF3 (D580N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108889	NM_001007237.3(IGSF3):c.1636G>A (p.Ala546Thr)	IGSF3 (A566T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274266	NM_001007237.3(IGSF3):c.1628T>C (p.Met543Thr)	IGSF3 (M563T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235012	NM_001007237.3(IGSF3):c.1618G>A (p.Ala540Thr)	IGSF3 (A540T +1 more)	Single nucleotide variant (missense variant)	not specified	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 3108888	NM_001007237.3(IGSF3):c.1477T>G (p.Ser493Ala)	IGSF3 (S493A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345094	NM_001007237.3(IGSF3):c.1450G>A (p.Val484Ile)	IGSF3 (V504I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294716	NM_001007237.3(IGSF3):c.1328G>A (p.Arg443His)	IGSF3 (R463H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108886	NM_001007237.3(IGSF3):c.1309G>A (p.Ala437Thr)	IGSF3 (A457T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375695	NM_001007237.3(IGSF3):c.1286G>A (p.Arg429His)	IGSF3 (R429H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108885	NM_001007237.3(IGSF3):c.1227C>G (p.Ser409Arg)	IGSF3 (S409R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108884	NM_001007237.3(IGSF3):c.1159G>A (p.Gly387Arg)	IGSF3 (G387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2284820	NM_001007237.3(IGSF3):c.1097T>A (p.Leu366His)	IGSF3 (L366H)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2365710	NM_001007237.3(IGSF3):c.931G>A (p.Asp311Asn)	IGSF3 (D311N)	Single nucleotide variant (missense variant)	not specified	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 3108913	NM_001007237.3(IGSF3):c.890C>T (p.Pro297Leu)	IGSF3 (P297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558939	NM_001007237.3(IGSF3):c.878C>T (p.Thr293Met)	IGSF3 (T293M)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2412166	NM_001007237.3(IGSF3):c.797G>A (p.Arg266His)	IGSF3 (R266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486762	NM_001007237.3(IGSF3):c.748G>A (p.Glu250Lys)	IGSF3 (E250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108912	NM_001007237.3(IGSF3):c.745G>A (p.Ala249Thr)	IGSF3 (A249T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3108909	NM_001007237.3(IGSF3):c.691C>T (p.Leu231Phe)	IGSF3 (L231F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108908	NM_001007237.3(IGSF3):c.668A>G (p.Lys223Arg)	IGSF3 (K223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389397	NM_001007237.3(IGSF3):c.554G>T (p.Arg185Leu)	IGSF3 (R185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108907	NM_001007237.3(IGSF3):c.517A>T (p.Thr173Ser)	IGSF3 (T173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108906	NM_001007237.3(IGSF3):c.485C>T (p.Pro162Leu)	IGSF3 (P162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553597	NM_001007237.3(IGSF3):c.466C>T (p.His156Tyr)	IGSF3 (H156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214857	NM_001007237.3(IGSF3):c.464T>C (p.Leu155Pro)	IGSF3 (L155P)	Single nucleotide variant (missense variant)	not specified	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 3108898	NM_001007237.3(IGSF3):c.284T>C (p.Ile95Thr)	IGSF3 (I95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108897	NM_001007237.3(IGSF3):c.268G>A (p.Gly90Arg)	IGSF3 (G90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257326	NM_001007237.3(IGSF3):c.265C>T (p.Arg89Cys)	IGSF3 (R89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518891	NM_001007237.3(IGSF3):c.211A>G (p.Ile71Val)	IGSF3 (I71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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