ClinVar for Gene (Select 3667) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286564	NM_005544.3(IRS1):c.3094G>A (p.Ala1032Thr)	IRS1 (A1032T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286563	NM_005544.3(IRS1):c.1799G>A (p.Arg600His)	IRS1 (R600H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286562	NM_005544.3(IRS1):c.160C>T (p.Arg54Trp)	IRS1 (R54W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286561	NM_005544.3(IRS1):c.2681G>A (p.Gly894Glu)	IRS1 (G894E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286560	NM_005544.3(IRS1):c.2828A>G (p.Lys943Arg)	IRS1 (K943R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286559	NM_005544.3(IRS1):c.534C>A (p.Asn178Lys)	IRS1 (N178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286558	NM_005544.3(IRS1):c.3386G>A (p.Gly1129Asp)	IRS1 (G1129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286557	NM_005544.3(IRS1):c.3220C>T (p.Arg1074Trp)	IRS1 (R1074W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286556	NM_005544.3(IRS1):c.1739G>A (p.Arg580His)	IRS1 (R580H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286555	NM_005544.3(IRS1):c.1283C>T (p.Ser428Leu)	IRS1 (S428L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286554	NM_005544.3(IRS1):c.1772C>A (p.Pro591His)	IRS1 (P591H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3110916	NM_005544.3(IRS1):c.824A>C (p.Asn275Thr)	IRS1 (N275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110915	NM_005544.3(IRS1):c.659T>A (p.Phe220Tyr)	IRS1 (F220Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110914	NM_005544.3(IRS1):c.59G>T (p.Arg20Leu)	IRS1, LOC129935722 (R20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110913	NM_005544.3(IRS1):c.346C>T (p.Arg116Cys)	IRS1 (R116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110912	NM_005544.3(IRS1):c.3376G>C (p.Gly1126Arg)	IRS1 (G1126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110911	NM_005544.3(IRS1):c.3350T>G (p.Val1117Gly)	IRS1 (V1117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110910	NM_005544.3(IRS1):c.3322C>G (p.Pro1108Ala)	IRS1 (P1108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110909	NM_005544.3(IRS1):c.306G>C (p.Glu102Asp)	IRS1 (E102D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110908	NM_005544.3(IRS1):c.3019G>A (p.Ala1007Thr)	IRS1 (A1007T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110907	NM_005544.3(IRS1):c.3008A>C (p.Asp1003Ala)	IRS1 (D1003A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110906	NM_005544.3(IRS1):c.2678C>T (p.Pro893Leu)	IRS1 (P893L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110905	NM_005544.3(IRS1):c.2504A>T (p.Gln835Leu)	IRS1 (Q835L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110904	NM_005544.3(IRS1):c.2263G>T (p.Asp755Tyr)	IRS1 (D755Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110903	NM_005544.3(IRS1):c.1786G>T (p.Gly596Trp)	IRS1 (G596W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110902	NM_005544.3(IRS1):c.1430C>T (p.Thr477Ile)	IRS1 (T477I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110901	NM_005544.3(IRS1):c.1111C>A (p.His371Asn)	IRS1 (H371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059613	NM_005544.3(IRS1):c.2084A>T (p.Tyr695Phe)	IRS1 (Y695F)	Single nucleotide variant (missense variant)	IRS1-related disorder	GBenign
Select item 3052467	NM_005544.3(IRS1):c.2039GCA[5] (p.Ser685_Ser686del)	IRS1	Microsatellite	IRS1-related disorder	GBenign
Select item 3049392	NM_005544.3(IRS1):c.2064C>T (p.Ala688=)	IRS1	Single nucleotide variant (synonymous variant)	IRS1-related disorder	GLikely benign
Select item 3048031	NM_005544.3(IRS1):c.264C>G (p.Thr88=)	IRS1	Single nucleotide variant (synonymous variant)	IRS1-related disorder	GLikely benign
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2651952	NM_005544.3(IRS1):c.1790G>A (p.Gly597Glu)	IRS1 (G597E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2628908	NM_005544.3(IRS1):c.3635G>A (p.Gly1212Asp)	IRS1 (G1212D)	Single nucleotide variant (missense variant)	IRS1-related disorder	GUncertain significance
Select item 2622403	NM_005544.3(IRS1):c.1798C>A (p.Arg600Ser)	IRS1 (R600S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616925	NM_005544.3(IRS1):c.2368C>G (p.Arg790Gly)	IRS1 (R790G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611392	NM_005544.3(IRS1):c.286G>C (p.Ala96Pro)	IRS1 (A96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596348	NM_005544.3(IRS1):c.3241C>T (p.Arg1081Cys)	IRS1 (R1081C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554673	NM_005544.3(IRS1):c.1402A>G (p.Met468Val)	IRS1 (M468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553720	NM_005544.3(IRS1):c.2560C>T (p.Arg854Cys)	IRS1 (R854C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545676	NM_005544.3(IRS1):c.3131C>T (p.Pro1044Leu)	IRS1 (P1044L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544396	NM_005544.3(IRS1):c.1352G>A (p.Gly451Asp)	IRS1 (G451D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542890	NM_005544.3(IRS1):c.2881G>A (p.Glu961Lys)	IRS1 (E961K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541205	NM_005544.3(IRS1):c.1229G>A (p.Arg410Gln)	IRS1 (R410Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540200	NM_005544.3(IRS1):c.2549A>G (p.Gln850Arg)	IRS1 (Q850R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536426	NM_005544.3(IRS1):c.778A>C (p.Met260Leu)	IRS1 (M260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529605	NM_005544.3(IRS1):c.1118G>A (p.Arg373His)	IRS1 (R373H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507536	NM_005544.3(IRS1):c.10C>T (p.Pro4Ser)	IRS1 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490145	NM_005544.3(IRS1):c.175G>T (p.Ala59Ser)	IRS1 (A59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485310	NM_005544.3(IRS1):c.1657G>C (p.Glu553Gln)	IRS1 (E553Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471940	NM_005544.3(IRS1):c.3362C>T (p.Ala1121Val)	IRS1 (A1121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466447	NM_005544.3(IRS1):c.3286C>G (p.Arg1096Gly)	IRS1 (R1096G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456684	NM_005544.3(IRS1):c.3170C>T (p.Ser1057Leu)	IRS1 (S1057L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426892	NC_000002.11:g.(?_227659726)_(228567034_?)dup	AGFG1, C2orf83 +7 more	Duplication	not provided	GUncertain significance
Select item 2411890	NM_005544.3(IRS1):c.3014C>T (p.Ser1005Leu)	IRS1 (S1005L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394248	NM_005544.3(IRS1):c.3265C>T (p.Arg1089Cys)	IRS1 (R1089C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391304	NM_005544.3(IRS1):c.919A>G (p.Ser307Gly)	IRS1 (S307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391208	NM_005544.3(IRS1):c.1117C>T (p.Arg373Cys)	IRS1 (R373C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383578	NM_005544.3(IRS1):c.3365G>T (p.Gly1122Val)	IRS1 (G1122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381837	NM_005544.3(IRS1):c.194C>A (p.Pro65His)	IRS1 (P65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381572	NM_005544.3(IRS1):c.3079C>T (p.Pro1027Ser)	IRS1 (P1027S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361352	NM_005544.3(IRS1):c.869A>G (p.Asn290Ser)	IRS1 (N290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359405	NM_005544.3(IRS1):c.1907G>A (p.Ser636Asn)	IRS1 (S636N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330145	NM_005544.3(IRS1):c.2354G>A (p.Arg785Gln)	IRS1 (R785Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325646	NM_005544.3(IRS1):c.874C>T (p.Pro292Ser)	IRS1 (P292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322747	NM_005544.3(IRS1):c.1928C>T (p.Pro643Leu)	IRS1 (P643L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320827	NM_005544.3(IRS1):c.2369G>A (p.Arg790His)	IRS1 (R790H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320084	NM_005544.3(IRS1):c.775G>A (p.Ala259Thr)	IRS1 (A259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312055	NM_005544.3(IRS1):c.2839G>A (p.Gly947Arg)	IRS1 (G947R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293412	NM_005544.3(IRS1):c.2362C>T (p.His788Tyr)	IRS1 (H788Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292546	NM_005544.3(IRS1):c.2660C>G (p.Pro887Arg)	IRS1 (P887R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275475	NM_005544.3(IRS1):c.838A>G (p.Ile280Val)	IRS1 (I280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272200	NM_005544.3(IRS1):c.2162G>C (p.Ser721Thr)	IRS1 (S721T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253407	NM_005544.3(IRS1):c.111G>T (p.Glu37Asp)	IRS1 (E37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245327	NM_005544.3(IRS1):c.3640G>C (p.Gly1214Arg)	IRS1 (G1214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240584	NM_005544.3(IRS1):c.2939G>A (p.Arg980Gln)	IRS1 (R980Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238044	NM_005544.3(IRS1):c.923T>G (p.Ile308Ser)	IRS1 (I308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230803	NM_005544.3(IRS1):c.1742C>T (p.Ser581Phe)	IRS1 (S581F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219468	NM_005544.3(IRS1):c.3515G>T (p.Gly1172Val)	IRS1 (G1172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207307	NM_005544.3(IRS1):c.3704A>G (p.Gln1235Arg)	IRS1 (Q1235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1459226	NC_000002.11:g.(?_227659726)_(228175684_?)del	COL4A3, COL4A4 +2 more	Deletion	not provided	GPathogenic
Select item 1429511	NC_000002.11:g.(?_227659726)_(227927334_?)del	COL4A4, IRS1 +1 more	Deletion	not provided	GPathogenic
Select item 1419797	NC_000002.11:g.(?_227659726)_(228175684_?)dup	COL4A3, COL4A4 +2 more	Duplication	not provided	GUncertain significance
Select item 1050448	NM_005544.3(IRS1):c.3406G>A (p.Glu1136Lys)	IRS1 (E1136K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980012	GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1	SPHKAP, MFF +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 804395	NM_005544.3(IRS1):c.158G>A (p.Trp53Ter)	IRS1 (W53*)	Single nucleotide variant (nonsense)	Wooly hair, autosomal recessive 3 +2 more	GLikely pathogenic
Select item 800012	NM_005544.3(IRS1):c.1458T>C (p.Ser486=)	IRS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783212	NM_005544.3(IRS1):c.132C>T (p.Leu44=)	IRS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781954	NM_005544.3(IRS1):c.1440C>T (p.Asn480=)	IRS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779412	NM_005544.3(IRS1):c.1266T>C (p.Asp422=)	IRS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779322	NM_005544.3(IRS1):c.2766G>A (p.Arg922=)	IRS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774416	NM_005544.3(IRS1):c.2358T>C (p.His786=)	IRS1	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +1 more	GBenign/Likely benign
Select item 773862	NM_005544.3(IRS1):c.2004C>T (p.Ser668=)	IRS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770879	NM_005544.3(IRS1):c.3409G>A (p.Asp1137Asn)	IRS1 (D1137N)	Single nucleotide variant (missense variant)	not provided	GBenign

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