FOXP3[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 328

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260313	NM_014009.4(FOXP3):c.*673G>A	FOXP3	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 11408	NM_014009.4(FOXP3):c.1290_*12delinsTG (p.Pro431fs)	FOXP3 (P396fs +1 more)	Indel (frameshift variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 1117487	NM_014009.4(FOXP3):c.1295G>A (p.Ter432=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 11411	NM_014009.4(FOXP3):c.1293_1294del (p.Ter432ThrextTer?)	FOXP3	Deletion (frameshift variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2101212	NM_014009.4(FOXP3):c.1285C>T (p.Pro429Ser)	FOXP3 (P429S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 953814	NM_014009.4(FOXP3):c.1280C>G (p.Pro427Arg)	FOXP3 (P427R +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1170901	NM_014009.4(FOXP3):c.1278C>A (p.Asn426Lys)	FOXP3 (N391K +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign/Likely benign
Select item 1947433	NM_014009.4(FOXP3):c.1277A>G (p.Asn426Ser)	FOXP3 (N391S +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 569686	NM_014009.4(FOXP3):c.1270_1272delinsC (p.Cys424fs)	FOXP3 (C389fs +1 more)	Indel (frameshift variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
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	GPathogenic
Select item 2660529	NM_014009.4(FOXP3):c.1257G>A (p.Gln419=)	FOXP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414017	NM_014009.4(FOXP3):c.1257G>C (p.Gln419His)	FOXP3 (Q419H +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 1482895	NM_014009.4(FOXP3):c.1253G>A (p.Ser418Asn)	FOXP3 (S383N +1 more)	Single nucleotide variant (missense variant)	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 1992842	NM_014009.4(FOXP3):c.1250G>A (p.Arg417Gln)	FOXP3 (R417Q +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 833808	NM_014009.4(FOXP3):c.1248A>T (p.Lys416Asn)	FOXP3 (K416N +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 581555	NM_014009.4(FOXP3):c.1247A>T (p.Lys416Ile)	FOXP3 (K416I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 763524	NM_014009.4(FOXP3):c.1241G>A (p.Arg414His)	FOXP3 (R414H +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign/Likely benign
Select item 1151373	NM_014009.4(FOXP3):c.1240C>T (p.Arg414Cys)	FOXP3 (R379C +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1685829	NM_014009.4(FOXP3):c.1234del (p.Glu412fs)	FOXP3 (E377fs +1 more)	Deletion (frameshift variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2074049	NM_014009.4(FOXP3):c.1227T>C (p.Asp409=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 435255	NM_014009.4(FOXP3):c.1222G>A (p.Val408Met)	FOXP3 (V408M +1 more)	Single nucleotide variant (missense variant)	FOXP3-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1547916	NM_014009.4(FOXP3):c.1221C>T (p.Thr407=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 1147012	NM_014009.4(FOXP3):c.1200C>T (p.Ser400=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 636928	NM_014009.4(FOXP3):c.1200C>A (p.Ser400Arg)	FOXP3 (S400R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660530	NM_014009.4(FOXP3):c.1191G>T (p.Arg397=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GLikely benign
Select item 379222	NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln)	FOXP3 (R397Q +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +6 more	GPathogenic
Select item 11407	NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp)	FOXP3 (R397W +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GPathogenic
Select item 1050823	NM_014009.4(FOXP3):c.1163A>G (p.Asn388Ser)	FOXP3 (N353S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 987395	NM_014009.4(FOXP3):c.1156C>T (p.Arg386Cys)	FOXP3 (R351C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2632996	NM_014009.4(FOXP3):c.1154T>A (p.Ile385Asn)	FOXP3 (I350N +1 more)	Single nucleotide variant (missense variant)	FOXP3-related disorder	GLikely pathogenic
Select item 1503298	NM_014009.4(FOXP3):c.1151C>T (p.Ala384Val)	FOXP3 (A349V +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely pathogenic
Select item 11410	NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr)	FOXP3 (A384T +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 745341	NM_014009.4(FOXP3):c.1149C>T (p.Asn383=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 2155572	NM_014009.4(FOXP3):c.1147-12G>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 1390061	NM_014009.4(FOXP3):c.1147-12G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1646829	NM_014009.4(FOXP3):c.1147-13C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 1560271	NM_014009.4(FOXP3):c.1146+17T>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2001388	NM_014009.4(FOXP3):c.1146+16G>C	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2063372	NM_014009.4(FOXP3):c.1146+8C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 498046	NM_014009.4(FOXP3):c.1135G>A (p.Ala379Thr)	FOXP3 (A379T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 529767	NM_014009.4(FOXP3):c.1129C>G (p.His377Asp)	FOXP3 (H377D +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 978636	NM_014009.4(FOXP3):c.1117TTC[1] (p.Phe374del)	FOXP3 (F339del +1 more)	Microsatellite (inframe_deletion)	Hydrops fetalis	GLikely pathogenic
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 11415	NM_014009.4(FOXP3):c.1117_1118delinsGC (p.Phe373Ala)	FOXP3 (F373A +1 more)	Indel (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 795567	NM_014009.4(FOXP3):c.1116C>A (p.Ala372=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 11409	NM_014009.4(FOXP3):c.1112T>G (p.Phe371Cys)	FOXP3 (F371C +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
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 373204	NM_014009.4(FOXP3):c.1108A>G (p.Met370Val)	FOXP3 (M370V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1354456	NM_014009.4(FOXP3):c.1106G>A (p.Arg369His)	FOXP3 (R334H +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 11419	NM_014009.4(FOXP3):c.1099T>C (p.Phe367Leu)	FOXP3 (F367L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
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	GUncertain significance
Select item 1505816	NM_014009.4(FOXP3):c.1087A>G (p.Ile363Val)	FOXP3 (I328V +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 1114564	NM_014009.4(FOXP3):c.1080C>G (p.Leu360=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 636863	NM_014009.4(FOXP3):c.1079T>C (p.Leu360Pro)	FOXP3 (L360P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 421339	NM_014009.4(FOXP3):c.1076C>T (p.Thr359Ile)	FOXP3 (T359I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 854732	NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln)	FOXP3 (R323Q +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GUncertain significance
Select item 785781	NM_014009.4(FOXP3):c.1051C>T (p.Leu351=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GBenign/Likely benign
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 755048	NM_014009.4(FOXP3):c.1045-15_1045-9del	FOXP3	Deletion (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1596483	NM_014009.4(FOXP3):c.1045-11C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1591575	NM_014009.4(FOXP3):c.1045-11C>G	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign/Likely benign
Select item 1667859	NM_014009.4(FOXP3):c.1045-13C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2167678	NM_014009.4(FOXP3):c.1045-14C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
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 1556777	NM_014009.4(FOXP3):c.1045-17C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1535188	NM_014009.4(FOXP3):c.1044+17G>A	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GBenign
Select item 1997213	NM_014009.4(FOXP3):c.1044+16C>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 850779	NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys)	FOXP3 (W348C +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 647073	NM_014009.4(FOXP3):c.1040G>A (p.Arg347His)	FOXP3 (R312H +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GPathogenic/Likely risk allele
Select item 2634917	NM_014009.4(FOXP3):c.1039C>T (p.Arg347Cys)	FOXP3 (R312C +1 more)	Single nucleotide variant (missense variant)	FOXP3-related disorder	GUncertain significance
Select item 529766	NM_014009.4(FOXP3):c.1036A>G (p.Ile346Val)	FOXP3 (I346V +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1086568	NM_014009.4(FOXP3):c.1032G>A (p.Thr344=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 1927266	NM_014009.4(FOXP3):c.1031C>T (p.Thr344Met)	FOXP3 (T309M +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 834207	NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys)	FOXP3 (T309K +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 940034	NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr)	FOXP3 (A308T +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 2058379	NM_014009.4(FOXP3):c.1026C>T (p.Tyr342=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2006625	NM_014009.4(FOXP3):c.1020C>G (p.Phe340Leu)	FOXP3 (F305L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 282065	NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala)	FOXP3 (P339A +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	GPathogenic/Likely pathogenic
Select item 935864	NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)	FOXP3 (R302Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic/Likely risk allele
Select item 372368	NM_014009.4(FOXP3):c.1009C>T (p.Arg337Ter)	FOXP3 (R337* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1056681	NM_014009.4(FOXP3):c.998T>A (p.Phe333Tyr)	FOXP3 (F298Y +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
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 460309	NM_014009.4(FOXP3):c.984G>A (p.Met328Ile)	FOXP3 (M328I +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome +1 more	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 1032588	NM_014009.4(FOXP3):c.977A>G (p.His326Arg)	FOXP3 (H291R +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1677891	NM_014009.4(FOXP3):c.970T>G (p.Phe324Val)	FOXP3 (F289V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 11416	NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu)	FOXP3 (F289L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1923344	NM_014009.4(FOXP3):c.968-12A>G	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 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 11412	NM_014009.4(FOXP3):c.967+4A>G	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1026145	NM_014009.4(FOXP3):c.967+3A>T	FOXP3	Single nucleotide variant (intron variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 944023	NM_014009.4(FOXP3):c.967G>A (p.Glu323Lys)	FOXP3 (E323K +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1356067	NM_014009.4(FOXP3):c.963C>G (p.Phe321Leu)	FOXP3 (F286L +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1166503	NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys)	FOXP3 (T285K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1907030	NM_014009.4(FOXP3):c.954C>T (p.Asn318=)	FOXP3	Single nucleotide variant (synonymous variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GLikely benign
Select item 2069618	NM_014009.4(FOXP3):c.941G>A (p.Gly314Asp)	FOXP3 (G314D +1 more)	Single nucleotide variant (missense variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance

<< First< Prev

Page of 4