ClinVar for Gene (Select 8471) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369499	NM_001379150.1(IRS4):c.692A>G (p.Tyr231Cys)	IRS4 (Y231C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3357930	NM_001379150.1(IRS4):c.2701A>G (p.Ile901Val)	IRS4 (I901V)	Single nucleotide variant (missense variant)	IRS4-related disorder	GUncertain significance
Select item 3344262	NM_001379150.1(IRS4):c.521A>G (p.Asp174Gly)	IRS4 (D174G)	Single nucleotide variant (missense variant)	IRS4-related disorder	GUncertain significance
Select item 3286576	NM_001379150.1(IRS4):c.3182C>A (p.Ser1061Tyr)	IRS4 (S1061Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286575	NM_001379150.1(IRS4):c.3050T>C (p.Ile1017Thr)	IRS4 (I1017T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286573	NM_001379150.1(IRS4):c.1790G>A (p.Gly597Glu)	IRS4 (G597E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257783	NM_001379150.1(IRS4):c.1412A>C (p.Glu471Ala)	IRS4 (E471A)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3246485	NC_000023.10:g.(?_107553958)_(107979574_?)del	COL4A5, COL4A6 +1 more	Deletion	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3110939	NM_001379150.1(IRS4):c.904A>G (p.Ile302Val)	IRS4 (I302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110937	NM_001379150.1(IRS4):c.394G>A (p.Ala132Thr)	IRS4 (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110936	NM_001379150.1(IRS4):c.3652C>G (p.Arg1218Gly)	IRS4 (R1218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110935	NM_001379150.1(IRS4):c.3536A>G (p.Gln1179Arg)	IRS4 (Q1179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110934	NM_001379150.1(IRS4):c.2223A>T (p.Arg741Ser)	IRS4 (R741S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110933	NM_001379150.1(IRS4):c.1766G>A (p.Gly589Glu)	IRS4 (G589E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110932	NM_001379150.1(IRS4):c.1682G>C (p.Gly561Ala)	IRS4 (G561A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110931	NM_001379150.1(IRS4):c.161T>C (p.Met54Thr)	IRS4 (M54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110930	NM_001379150.1(IRS4):c.1076G>A (p.Arg359Lys)	IRS4 (R359K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3060972	NM_001379150.1(IRS4):c.3025G>T (p.Ala1009Ser)	IRS4 (A1009S)	Single nucleotide variant (missense variant)	IRS4-related disorder	GLikely benign
Select item 3050397	NM_001379150.1(IRS4):c.582C>A (p.Leu194=)	IRS4	Single nucleotide variant (synonymous variant)	IRS4-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2673253	NM_001379150.1(IRS4):c.2852C>T (p.Pro951Leu)	IRS4 (P951L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661176	NM_001379150.1(IRS4):c.119C>A (p.Pro40Gln)	IRS4 (P40Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661175	NM_001379150.1(IRS4):c.810C>T (p.Thr270=)	IRS4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661174	NM_001379150.1(IRS4):c.1735G>A (p.Gly579Ser)	IRS4 (G579S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661173	NM_001379150.1(IRS4):c.3300C>G (p.Val1100=)	IRS4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661172	NM_001379150.1(IRS4):c.3417G>T (p.Ala1139=)	IRS4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661171	NM_001379150.1(IRS4):c.3624T>G (p.Ala1208=)	IRS4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620781	NM_001379150.1(IRS4):c.2583G>C (p.Glu861Asp)	IRS4 (E861D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619776	NM_001379150.1(IRS4):c.347G>A (p.Arg116Lys)	IRS4 (R116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608576	NM_001379150.1(IRS4):c.3590C>T (p.Ala1197Val)	IRS4 (A1197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605129	NM_001379150.1(IRS4):c.181G>C (p.Gly61Arg)	IRS4 (G61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599963	NM_001379150.1(IRS4):c.3517G>A (p.Glu1173Lys)	IRS4 (E1173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593089	NM_001379150.1(IRS4):c.699T>A (p.Asp233Glu)	IRS4 (D233E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590434	NM_001379150.1(IRS4):c.1720C>G (p.Gln574Glu)	IRS4 (Q574E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590347	NM_001379150.1(IRS4):c.3322C>G (p.Leu1108Val)	IRS4 (L1108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581969	NM_001379150.1(IRS4):c.2282C>T (p.Ala761Val)	IRS4 (A761V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558720	NM_001379150.1(IRS4):c.1766G>T (p.Gly589Val)	IRS4 (G589V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556865	NM_001379150.1(IRS4):c.37A>G (p.Arg13Gly)	IRS4 (R13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547803	NM_001379150.1(IRS4):c.2639A>G (p.Glu880Gly)	IRS4 (E880G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538571	NM_001379150.1(IRS4):c.2284C>G (p.Pro762Ala)	IRS4 (P762A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538479	NM_001379150.1(IRS4):c.2884G>A (p.Val962Ile)	IRS4 (V962I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537995	NM_001379150.1(IRS4):c.2714C>T (p.Pro905Leu)	IRS4 (P905L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527407	NM_001379150.1(IRS4):c.1473C>A (p.Asn491Lys)	IRS4 (N491K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524327	NM_001379150.1(IRS4):c.638C>G (p.Pro213Arg)	IRS4 (P213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520985	NM_001379150.1(IRS4):c.3040G>A (p.Gly1014Ser)	IRS4 (G1014S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506690	NM_001379150.1(IRS4):c.1553G>A (p.Gly518Glu)	IRS4 (G518E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2500573	NM_001379150.1(IRS4):c.499dup (p.Leu167fs)	IRS4 (L167fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2499351	NM_001379150.1(IRS4):c.1702C>T (p.His568Tyr)	IRS4 (H568Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499150	NM_001379150.1(IRS4):c.3534C>A (p.Ala1178=)	IRS4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487337	NM_001379150.1(IRS4):c.1288G>A (p.Ala430Thr)	IRS4 (A430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487031	NM_001379150.1(IRS4):c.1958T>A (p.Phe653Tyr)	IRS4 (F653Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471610	NM_001379150.1(IRS4):c.2672G>A (p.Arg891Gln)	IRS4 (R891Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461690	NM_001379150.1(IRS4):c.3001C>T (p.Pro1001Ser)	IRS4 (P1001S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424529	NC_000023.10:g.(?_106046084)_(108868249_?)del	ATG4A, CLDN2 +19 more	Deletion	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2423172	NC_000023.10:g.(?_107898541)_(107979574_?)del	COL4A5, IRS4	Deletion	not provided	GPathogenic
Select item 2423166	NC_000023.10:g.(?_107858121)_(107979574_?)del	COL4A5, IRS4	Deletion	not provided	GPathogenic
Select item 2410981	NM_001379150.1(IRS4):c.1502C>T (p.Ser501Leu)	IRS4 (S501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393898	NM_001379150.1(IRS4):c.635A>G (p.Gln212Arg)	IRS4 (Q212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389692	NM_001379150.1(IRS4):c.659T>C (p.Leu220Pro)	IRS4 (L220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388661	NM_001379150.1(IRS4):c.641A>C (p.Asp214Ala)	IRS4 (D214A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388660	NM_001379150.1(IRS4):c.628G>A (p.Gly210Ser)	IRS4 (G210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373961	NM_001379150.1(IRS4):c.2002A>G (p.Lys668Glu)	IRS4 (K668E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371609	NM_001379150.1(IRS4):c.1799C>T (p.Ser600Phe)	IRS4 (S600F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356713	NM_001379150.1(IRS4):c.1925G>C (p.Gly642Ala)	IRS4 (G642A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348085	NM_001379150.1(IRS4):c.3676C>A (p.Pro1226Thr)	IRS4 (P1226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319352	NM_001379150.1(IRS4):c.2224G>A (p.Gly742Arg)	IRS4 (G742R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314458	NM_001379150.1(IRS4):c.70G>A (p.Ala24Thr)	IRS4 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304884	NM_001379150.1(IRS4):c.1094C>G (p.Pro365Arg)	IRS4 (P365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299953	NM_001379150.1(IRS4):c.113G>A (p.Gly38Glu)	IRS4 (G38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295959	NM_001379150.1(IRS4):c.2376C>A (p.Asn792Lys)	IRS4 (N792K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294940	NM_001379150.1(IRS4):c.173C>G (p.Thr58Arg)	IRS4 (T58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289451	NM_001379150.1(IRS4):c.610C>A (p.Arg204Ser)	IRS4 (R204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287283	NM_001379150.1(IRS4):c.154G>A (p.Gly52Arg)	IRS4 (G52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281911	NM_001379150.1(IRS4):c.1657G>A (p.Ala553Thr)	IRS4 (A553T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275643	NM_001379150.1(IRS4):c.1994A>C (p.Lys665Thr)	IRS4 (K665T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274394	NM_001379150.1(IRS4):c.1999T>C (p.Cys667Arg)	IRS4 (C667R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270817	NM_001379150.1(IRS4):c.2519G>T (p.Gly840Val)	IRS4 (G840V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266923	NM_001379150.1(IRS4):c.1273G>A (p.Ala425Thr)	IRS4 (A425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265541	NM_001379150.1(IRS4):c.2693G>A (p.Gly898Glu)	IRS4 (G898E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245328	NM_001379150.1(IRS4):c.1039A>C (p.Ile347Leu)	IRS4 (I347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232884	NM_001379150.1(IRS4):c.539T>C (p.Val180Ala)	IRS4 (V180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232806	NM_001379150.1(IRS4):c.446C>T (p.Thr149Ile)	IRS4 (T149I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224449	NM_001379150.1(IRS4):c.2530G>A (p.Glu844Lys)	IRS4 (E844K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208516	NM_001379150.1(IRS4):c.598G>C (p.Glu200Gln)	IRS4 (E200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1695800	NM_001379150.1(IRS4):c.3728T>G (p.Phe1243Cys)	IRS4 (F1243C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678454	NM_001379150.1(IRS4):c.3052G>T (p.Glu1018Ter)	IRS4 (E1018*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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