ClinVar for MedGen (Select 83339) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3726935	NM_014009.4(FOXP3):c.817-12C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3726445	NM_014009.4(FOXP3):c.1191G>A (p.Arg397=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3725024	NM_014009.4(FOXP3):c.871_894dup (p.Pro298_Arg299insValValProAlaTrpSerGlyPro)	FOXP3	Duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3724933	NM_014009.4(FOXP3):c.455-9del	FOXP3	Deletion (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 3724235	NM_014009.4(FOXP3):c.906del (p.Asp303fs)	FOXP3 (D303fs +1 more)	Deletion (frameshift variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 3723972	NM_014009.4(FOXP3):c.1045-15C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3718316	NM_014009.4(FOXP3):c.272A>C (p.His91Pro)	FOXP3 (H91P)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3717877	NM_014009.4(FOXP3):c.443G>T (p.Gly148Val)	FOXP3 (G113V +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3713847	NM_014009.4(FOXP3):c.810A>G (p.Ser270=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3713131	NM_014009.4(FOXP3):c.666T>C (p.His222=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3711274	NM_014009.4(FOXP3):c.363C>T (p.His121=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3694329	NM_014009.4(FOXP3):c.316-8C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3691424	NM_014009.4(FOXP3):c.967+9G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3690151	NM_014009.4(FOXP3):c.673G>C (p.Asp225His)	FOXP3 (D190H +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3688016	NM_014009.4(FOXP3):c.316-16C>G	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3685065	NM_014009.4(FOXP3):c.816+11C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3682659	NM_014009.4(FOXP3):c.1291C>T (p.Pro431Ser)	FOXP3 (P431S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3679280	NM_014009.4(FOXP3):c.968-7C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3679054	NM_014009.4(FOXP3):c.655C>A (p.Gln219Lys)	FOXP3 (Q184K +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3676200	NM_014009.4(FOXP3):c.198A>G (p.Pro66=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3674038	NM_014009.4(FOXP3):c.1062A>G (p.Pro354=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3661610	NM_014009.4(FOXP3):c.867C>A (p.Gly289=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3651120	NM_014009.4(FOXP3):c.826G>C (p.Asp276His)	FOXP3 (D241H +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3647868	NM_014009.4(FOXP3):c.648-5C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3641470	NM_014009.4(FOXP3):c.532A>G (p.Arg178Gly)	FOXP3 (R143G +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3627343	NM_014009.4(FOXP3):c.494C>A (p.Pro165Gln)	FOXP3 (P130Q +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GUncertain significance
Select item 3626095	NM_014009.4(FOXP3):c.1007T>C (p.Met336Thr)	FOXP3 (M301T +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3623264	NM_014009.4(FOXP3):c.142C>G (p.Arg48Gly)	FOXP3 (R48G)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3618802	NM_014009.4(FOXP3):c.799A>T (p.Thr267Ser)	FOXP3 (T232S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3615797	NM_014009.4(FOXP3):c.525T>A (p.Ser175Arg)	FOXP3 (S140R +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3609418	NM_014009.4(FOXP3):c.454+16G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3604443	NM_014009.4(FOXP3):c.43G>A (p.Ala15Thr)	FOXP3 (A15T)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598358	NM_014009.4(FOXP3):c.68C>T (p.Ser23Leu)	FOXP3 (S23L)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598357	NM_014009.4(FOXP3):c.262C>T (p.Pro88Ser)	FOXP3 (P88S)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598356	NM_014009.4(FOXP3):c.315+18G>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598355	NM_014009.4(FOXP3):c.408C>A (p.Thr136=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598354	NM_014009.4(FOXP3):c.416G>A (p.Gly139Glu)	FOXP3 (G139E +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598353	NM_014009.4(FOXP3):c.482T>G (p.Val161Gly)	FOXP3 (V126G +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598352	NM_014009.4(FOXP3):c.713T>G (p.Met238Arg)	FOXP3 (M203R +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598351	NM_014009.4(FOXP3):c.799A>G (p.Thr267Ala)	FOXP3 (T267A +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598350	NM_014009.4(FOXP3):c.844A>G (p.Ile282Val)	FOXP3 (I282V +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598348	NM_014009.4(FOXP3):c.846C>T (p.Ile282=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3598347	NM_014009.4(FOXP3):c.847G>A (p.Val283Ile)	FOXP3 (V283I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3375656	NM_014009.4(FOXP3):c.877C>G (p.Pro293Ala)	FOXP3 (P258A +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GUncertain significance
Select item 3363135	NM_014009.4(FOXP3):c.929G>A (p.Arg310Lys)	FOXP3 (R275K +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3096566	NM_014009.4(FOXP3):c.297G>C (p.Arg99Ser)	FOXP3 (R99S)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GUncertain significance
Select item 3012014	NM_014009.4(FOXP3):c.786G>A (p.Gly262=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3009934	NM_014009.4(FOXP3):c.166G>A (p.Ala56Thr)	FOXP3 (A56T)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3008832	NM_014009.4(FOXP3):c.195A>T (p.Pro65=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3006911	NM_014009.4(FOXP3):c.84T>C (p.Ala28=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 3002694	NM_014009.4(FOXP3):c.131C>G (p.Thr44Ser)	FOXP3 (T44S)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GConflicting classifications of pathogenicity
Select item 3000996	NM_014009.4(FOXP3):c.981C>T (p.Asn327=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2987428	NM_014009.4(FOXP3):c.318C>T (p.Leu106=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2981576	NM_014009.4(FOXP3):c.736_737inv (p.Leu246Arg)	FOXP3 (L246R +1 more)	Inversion (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2980150	NM_014009.4(FOXP3):c.968-17T>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2980146	NM_014009.4(FOXP3):c.968-13del	FOXP3	Deletion (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 2977418	NM_014009.4(FOXP3):c.248G>A (p.Gly83Glu)	FOXP3 (G83E)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2975412	NM_014009.4(FOXP3):c.444C>T (p.Gly148=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2965112	NM_014009.4(FOXP3):c.524G>A (p.Ser175Asn)	FOXP3 (S175N +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2910487	NM_014009.4(FOXP3):c.1091A>G (p.Tyr364Cys)	FOXP3 (Y329C +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2893565	NM_014009.4(FOXP3):c.607G>A (p.Gly203Arg)	FOXP3 (G203R +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2885000	NM_014009.4(FOXP3):c.817-10C>G	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2867320	NM_014009.4(FOXP3):c.420C>G (p.Val140=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2858895	NM_014009.4(FOXP3):c.811T>C (p.Ser271Pro)	FOXP3 (S236P +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2852873	NM_014009.4(FOXP3):c.418G>C (p.Val140Leu)	FOXP3 (V105L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GUncertain significance
Select item 2850525	NM_014009.4(FOXP3):c.606C>T (p.Pro202=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2844505	NM_014009.4(FOXP3):c.727G>A (p.Glu243Lys)	FOXP3 (E208K +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2840049	NM_014009.4(FOXP3):c.543-5C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2837990	NM_014009.4(FOXP3):c.407C>T (p.Thr136Ile)	FOXP3 (T136I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GUncertain significance
Select item 2835424	NM_014009.4(FOXP3):c.542+6T>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2833808	NM_014009.4(FOXP3):c.1045-15C>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2827811	NM_014009.4(FOXP3):c.648-3T>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2827014	NM_014009.4(FOXP3):c.1045-6T>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2822037	NM_014009.4(FOXP3):c.816G>A (p.Val272=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2813536	NM_014009.4(FOXP3):c.210+5G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2812165	NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)	FOXP3 (A32S)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2811319	NM_014009.4(FOXP3):c.211C>G (p.Leu71Val)	FOXP3 (L71V)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2794578	NM_014009.4(FOXP3):c.1252A>G (p.Ser418Gly)	FOXP3 (S418G +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2788912	NM_014009.4(FOXP3):c.761G>A (p.Ser254Asn)	FOXP3 (S219N +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2776984	NM_014009.4(FOXP3):c.1119C>T (p.Phe373=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2760890	NM_014009.4(FOXP3):c.992T>C (p.Phe331Ser)	FOXP3 (F296S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2745750	NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)	FOXP3 (S383T +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2745216	NM_014009.4(FOXP3):c.229G>C (p.Val77Leu)	FOXP3 (V77L)	Single nucleotide variant (missense variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2743402	NM_014009.4(FOXP3):c.883T>C (p.Trp295Arg)	FOXP3 (W295R +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2724536	NM_014009.4(FOXP3):c.660G>A (p.Ala220=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2721887	NM_014009.4(FOXP3):c.847G>T (p.Val283Leu)	FOXP3 (V248L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2718682	NM_014009.4(FOXP3):c.1249C>T (p.Arg417Trp)	FOXP3 (R382W +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2715771	NM_014009.4(FOXP3):c.61G>C (p.Gly21Arg)	FOXP3 (G21R)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2704260	NM_014009.4(FOXP3):c.619G>A (p.Val207Ile)	FOXP3 (V207I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2675750	NM_014009.4(FOXP3):c.1110G>A (p.Met370Ile)	FOXP3 (M335I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2675749	NM_014009.4(FOXP3):c.315+1G>A	FOXP3	Single nucleotide variant (intron variant +1 more)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
Select item 2660530	NM_014009.4(FOXP3):c.1191G>T (p.Arg397=)	FOXP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2584421	NM_014009.4(FOXP3):c.1271G>A (p.Cys424Tyr)	FOXP3 (C389Y +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GConflicting classifications of pathogenicity
Select item 2500871	NM_014009.4(FOXP3):c.542+2T>G	FOXP3	Single nucleotide variant (splice donor variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
Select item 2441554	NM_014009.4(FOXP3):c.575C>T (p.Pro192Leu)	FOXP3 (P157L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GUncertain significance
Select item 2440311	NM_014009.4(FOXP3):c.543-2A>G	FOXP3	Single nucleotide variant (splice acceptor variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
Select item 2431861	NM_014009.4(FOXP3):c.716T>C (p.Val239Ala)	FOXP3 (V204A +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	CCDC22, CCNB3 +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2416693	NM_014009.4(FOXP3):c.940G>A (p.Gly314Ser)	FOXP3 (G279S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2415846	NM_014009.4(FOXP3):c.455-19G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign

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