ClinVar for MedGen (Select 232603) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066141	NM_000249.4(MLH1):c.1130A>G (p.Lys377Arg)	MLH1 (K136R +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 3061924	NM_000249.4(MLH1):c.108dup (p.Glu37Ter)	MLH1 (E37*)	Duplication (nonsense +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 3061744	NM_000249.4(MLH1):c.1871dup (p.Asp624fs)	MLH1 (D266fs +5 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2691728	NM_000249.4(MLH1):c.1040C>T (p.Thr347Ile)	MLH1 (T106I +4 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely pathogenic
Select item 2676593	NM_000249.4(MLH1):c.1211del (p.Leu404fs)	MLH1 (L163fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely pathogenic
Select item 2676592	NM_000249.4(MLH1):c.116+3A>T	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GUncertain significance
Select item 2676589	NM_000249.4(MLH1):c.1148T>G (p.Met383Arg)	MLH1 (M142R +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676586	NM_000249.4(MLH1):c.-167del	MLH1	Deletion	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676584	NM_000249.4(MLH1):c.940G>A (p.Val314Ile)	MLH1 (V216I +3 more)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676583	NM_000249.4(MLH1):c.485G>A (p.Arg162Lys)	MLH1 (R129K +2 more)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676582	NM_000249.4(MLH1):c.373G>A (p.Ala125Thr)	MLH1 (A125T +2 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676581	NM_000249.4(MLH1):c.1838A>G (p.Glu613Gly)	MLH1 (E255G +5 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676580	NM_000249.4(MLH1):c.410C>G (p.Ala137Gly)	MLH1 (A104G +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 2676579	NM_000249.4(MLH1):c.1012A>G (p.Asn338Asp)	MLH1 (N240D +3 more)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676578	NM_000249.4(MLH1):c.973C>G (p.Arg325Gly)	MLH1 (R227G +3 more)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2676577	NM_000249.4(MLH1):c.1894G>A (p.Glu632Lys)	MLH1 (E274K +5 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 2674572	NM_000249.4(MLH1):c.1778del (p.Pro593fs)	MLH1 (P235fs +5 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674570	NM_000249.4(MLH1):c.1865_1866insAT (p.Ala623fs)	MLH1 (A265fs +5 more)	Insertion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674569	NM_000249.4(MLH1):c.428del (p.Ala143fs)	MLH1 (A110fs +2 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674568	NM_000249.4(MLH1):c.1928_1931dup (p.Asp644_Asn645insTer)	MLH1	Duplication (nonsense +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674566	NM_000249.4(MLH1):c.1046_1047delinsC (p.Leu349fs)	MLH1 (L108fs +4 more)	Indel (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674564	NM_000249.4(MLH1):c.888_890delinsC (p.Leu296fs)	MLH1 (L198fs +3 more)	Indel (frameshift variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674562	NM_000249.4(MLH1):c.1152_1155dup (p.Thr386fs)	MLH1 (T145fs +5 more)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674561	NM_000249.4(MLH1):c.556del (p.His186fs)	MLH1 (H153fs +2 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674560	NM_000249.4(MLH1):c.2259dup (p.Glu754Ter)	MLH1 (E396* +8 more)	Duplication (nonsense)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674559	NM_000249.4(MLH1):c.56del (p.Ile19fs)	MLH1 (I19fs)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674557	NM_000249.4(MLH1):c.1109del (p.Ser370fs)	MLH1 (S129fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674556	NM_000249.4(MLH1):c.1667+2T>A	MLH1	Single nucleotide variant (splice donor variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674554	NM_000249.4(MLH1):c.1547dup (p.His518fs)	MLH1 (H160fs +5 more)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674553	NM_000249.4(MLH1):c.1423G>T (p.Glu475Ter)	MLH1 (E117* +5 more)	Single nucleotide variant (nonsense)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674552	NM_000249.4(MLH1):c.416del (p.Pro139fs)	MLH1 (P106fs +2 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674550	NM_000249.4(MLH1):c.1164_1165del (p.Arg389fs)	MLH1 (R148fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674549	NM_000249.4(MLH1):c.1654dup (p.Thr552fs)	MLH1 (T194fs +5 more)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674548	NM_000249.4(MLH1):c.2105dup (p.Ser702fs)	MLH1 (S344fs +8 more)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674546	NM_000249.4(MLH1):c.1759_1763del (p.Met587fs)	MLH1 (M229fs +5 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674545	NM_000249.4(MLH1):c.239del (p.Phe80fs)	MLH1 (F80fs)	Deletion (frameshift variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674543	NM_000249.4(MLH1):c.306+1G>C	MLH1	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 2674542	NM_000249.4(MLH1):c.1582_1583insGGTT (p.His528fs)	MLH1 (H170fs +5 more)	Insertion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674541	NM_000249.4(MLH1):c.790+2_790+24del	MLH1	Deletion (splice donor variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674539	NM_000249.4(MLH1):c.519T>A (p.Tyr173Ter)	MLH1 (Y140* +2 more)	Single nucleotide variant (nonsense +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674536	NM_000249.4(MLH1):c.62_68delinsTT (p.Ala21fs)	MLH1 (A21fs)	Indel (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674535	NM_000249.4(MLH1):c.1661del (p.Lys554fs)	MLH1 (K196fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674534	NM_000249.4(MLH1):c.1250_1251del (p.Thr417fs)	MLH1 (T176fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674533	NM_000249.4(MLH1):c.1255del (p.Ile419fs)	MLH1 (I178fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674532	NM_000249.4(MLH1):c.654dup (p.Ile219fs)	MLH1 (I121fs +2 more)	Duplication (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 2674531	NM_000249.4(MLH1):c.2179delinsAG (p.His727fs)	MLH1 (H369fs +8 more)	Indel (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674529	NM_000249.4(MLH1):c.100_103del (p.Lys33_Glu34insTer)	MLH1	Deletion (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 2674528	NM_000249.4(MLH1):c.93del (p.Ile32fs)	MLH1 (I32fs)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674527	NM_000249.4(MLH1):c.1653del (p.Asn551fs)	MLH1 (N193fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674525	NM_000249.4(MLH1):c.1084del (p.Ser362fs)	MLH1 (S121fs +5 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 2674523	NM_000249.4(MLH1):c.2196dup (p.His733fs)	MLH1 (H375fs +8 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 2674522	NM_000249.4(MLH1):c.1951G>T (p.Glu651Ter)	MLH1 (E293* +6 more)	Single nucleotide variant (nonsense +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674519	NM_000249.4(MLH1):c.1855_1856dup (p.Glu620fs)	MLH1 (E262fs +5 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674518	NM_000249.4(MLH1):c.1781del (p.Glu594fs)	MLH1 (E236fs +5 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GPathogenic
Select item 2674517	NM_000249.4(MLH1):c.119_131delinsNNNNNNNNNNN (p.Leu40fs)	MLH1 (L40fs)	Indel (frameshift variant +3 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674515	NM_000249.4(MLH1):c.735del (p.Gly244_Tyr245insTer)	MLH1	Deletion (nonsense +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674514	NM_000249.4(MLH1):c.1656dup (p.Thr553fs)	MLH1 (T195fs +5 more)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674513	NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)	MLH1 (F256fs +5 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic/Likely pathogenic
Select item 2674512	NM_000249.4(MLH1):c.333_334del (p.His112fs)	MLH1 (H112fs +2 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674510	NM_000249.4(MLH1):c.2251A>T (p.Lys751Ter)	MLH1 (K751* +8 more)	Single nucleotide variant (nonsense)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674507	NM_000249.4(MLH1):c.418A>T (p.Lys140Ter)	MLH1 (K107* +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674506	NM_000249.4(MLH1):c.2069dup (p.Tyr690Ter)	MLH1 (Y332* +7 more)	Duplication (nonsense +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674504	NM_000249.4(MLH1):c.1667+2T>G	MLH1	Single nucleotide variant (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic/Likely pathogenic
Select item 2674501	NM_000249.4(MLH1):c.737del (p.Ile246fs)	MLH1 (I148fs +3 more)	Deletion (frameshift variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674500	NM_000249.4(MLH1):c.560dup (p.Asn187fs)	MLH1 (N154fs +2 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674499	NM_000249.4(MLH1):c.1761dup (p.Leu588fs)	MLH1 (L230fs +5 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674498	NM_000249.4(MLH1):c.1978del (p.Arg659_Leu660insTer)	MLH1	Deletion (nonsense +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674497	NM_000249.4(MLH1):c.62del (p.Ala21fs)	MLH1 (A21fs)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674496	NM_000249.4(MLH1):c.1847del (p.Lys616fs)	MLH1 (K258fs +5 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674495	NM_000249.4(MLH1):c.80_86del (p.Arg27fs)	MLH1 (R27fs)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674494	NM_000249.4(MLH1):c.996del (p.Ser332fs)	MLH1 (S234fs +3 more)	Deletion (frameshift variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674493	NM_000249.4(MLH1):c.978_979delinsTT (p.Gln327Ter)	MLH1 (Q229* +3 more)	Indel (nonsense +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674492	NM_000249.4(MLH1):c.1343_1344insC (p.Glu448fs)	MLH1 (E107fs +5 more)	Insertion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674491	NM_000249.4(MLH1):c.154_158del (p.Lys52fs)	MLH1 (K52fs)	Deletion (frameshift variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674490	NM_000249.4(MLH1):c.1597_1616del (p.Cys533fs)	MLH1 (C175fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674489	NM_000249.4(MLH1):c.562_581del (p.Asn187_Ala188insTer)	MLH1	Deletion (nonsense +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674488	NM_000249.4(MLH1):c.192dup (p.Gly65fs)	MLH1 (G65fs)	Duplication (frameshift variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674487	NM_000249.4(MLH1):c.734dup (p.Tyr245Ter)	MLH1 (Y147* +3 more)	Duplication (nonsense +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674486	NM_000249.4(MLH1):c.828del (p.Ile276fs)	MLH1 (I178fs +3 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674485	NM_000249.4(MLH1):c.2236_2237insG (p.Leu746fs)	MLH1 (L388fs +8 more)	Insertion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674484	NM_000249.4(MLH1):c.1286_1293del (p.Glu429fs)	MLH1 (E188fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674483	NM_000249.4(MLH1):c.1568del (p.Glu523fs)	MLH1 (E165fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674482	NM_000249.4(MLH1):c.1589_1608del (p.Phe530fs)	MLH1 (F172fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674481	NM_000249.4(MLH1):c.562dup (p.Ala188fs)	MLH1 (A155fs +2 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674480	NM_000249.4(MLH1):c.809del (p.Thr270fs)	MLH1 (T172fs +3 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674478	NM_000249.4(MLH1):c.1210del (p.Leu404fs)	MLH1 (L163fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674477	NM_000249.4(MLH1):c.378C>A (p.Tyr126Ter)	MLH1 (Y126* +2 more)	Single nucleotide variant (nonsense +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674476	NM_000249.4(MLH1):c.471C>G (p.Tyr157Ter)	MLH1 (Y124* +2 more)	Single nucleotide variant (nonsense +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674474	NM_000249.4(MLH1):c.2148_2163del (p.Glu717fs)	MLH1 (E359fs +8 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674473	NM_000249.4(MLH1):c.412_413dup (p.Pro139fs)	MLH1 (P106fs +2 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674472	NM_000249.4(MLH1):c.923del (p.His308fs)	MLH1 (H210fs +3 more)	Deletion (frameshift variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674471	NM_000249.4(MLH1):c.1182dup (p.Ala395fs)	MLH1 (A154fs +5 more)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674470	NM_000249.4(MLH1):c.620dup (p.Pro208fs)	MLH1 (P110fs +2 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674469	NM_000249.4(MLH1):c.1121dup (p.Ser374fs)	MLH1 (S133fs +5 more)	Duplication (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674468	NM_000249.4(MLH1):c.2082dup (p.Ser695fs)	MLH1 (S337fs +7 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674467	NM_000249.4(MLH1):c.264dup (p.Glu89Ter)	MLH1 (E89*)	Duplication (nonsense +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GPathogenic
Select item 2674466	NM_000249.4(MLH1):c.1645del (p.Leu549fs)	MLH1 (L191fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674465	NM_000249.4(MLH1):c.1770dup (p.Asp591fs)	MLH1 (D233fs +5 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674463	NM_000249.4(MLH1):c.1287_1288insC (p.Glu430fs)	MLH1 (E189fs +5 more)	Insertion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 2674462	NM_000249.4(MLH1):c.704del (p.Asp235fs)	MLH1 (D137fs +2 more)	Deletion (frameshift variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic

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