TFAP2B[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1493011.	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 GRCh37: Chr6:45649408-54076842 GRCh38: Chr6:45681671-54212044	ADGRF1, ADGRF2, ADGRF4, ADGRF5, ADGRF5-AS1, ANKRD66, C6orf141, CD2AP, CENPQ, CILK1, CLIC5, CRISP1, CRISP2, CRISP3, CYP39A1, DEFB110, DEFB112, DEFB113, DEFB114, EFHC1, ELOVL5, ENPP4, ENPP5, FBXO9, GCLC, GCLC-AS1, GCM1, GLYATL3, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, IL17A, IL17F, KILH, KLHL31, LINC01564, LINCMD1, LOC101926915, LOC101927020, LOC101927048, LOC101927082, LOC101927189, LOC110120617, LOC110120792, LOC110121112, LOC110121250, LOC111365194, LOC111429620, LOC113175006, LOC113175007, LOC114004401, LOC114004402, LOC116183064, LOC121132687, LOC121132688, LOC121740649, LOC121740650, LOC121740651, LOC121740652, LOC123744814, LOC123744815, LOC123744816, LOC123744817, LOC123744818, LOC123744819, LOC123744820, LOC123744821, LOC123744822, LOC123744823, LOC123744824, LOC123744825, LOC123744826, LOC123744827, LOC123744828, LOC126859682, LOC126859683, LOC126859684, LOC126859685, LOC126859686, LOC126859687, LOC126859688, LOC126859689, LOC126859690, LOC126859691, LOC126859692, LOC126859693, LOC126859694, LOC126859695, LOC126859696, LOC126859697, LOC128031835, LOC128092246, LOC730101, LRRC1, MCM3, MEP1A, MIR133B, MIR206, MIR5685, MLIP, MLIP-AS1, MLIP-IT1, MMUT, OPN5, PAQR8, PGK2, PKHD1, PLA2G7, PTCHD4, RCAN2, RCAN2-DT, RHAG, RN7SK, SLC25A27, TDRD6, TDRD6-AS1, TFAP2B, TFAP2D, TMEM14A, TNFRSF21, TRAM2, TRAM2-AS1		See cases	Pathogenic (Aug 20, 2012)	no assertion criteria provided
Select item 1532252.	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1 GRCh37: Chr6:47159515-51292104 GRCh38: Chr6:47191779-51427306	C6orf141, CD2AP, CENPQ, CRISP1, CRISP2, CRISP3, DEFB110, DEFB112, DEFB113, DEFB114, GLYATL3, LOC101927020, LOC101927048, LOC110120617, LOC110120792, LOC111429620, LOC114004402, LOC116183064, LOC121132687, LOC121740649, LOC123744815, LOC123744816, LOC123744817, LOC123744818, LOC123744819, LOC126859685, LOC126859686, LOC126859687, LOC126859688, LOC126859689, MMUT, OPN5, PGK2, PTCHD4, RHAG, TFAP2B, TFAP2D, TNFRSF21, ADGRF2, ADGRF4		See cases	Likely pathogenic (Mar 24, 2014)	no assertion criteria provided
Select item 12736513.	NM_003221.3(TFAP2B):c.-34G>A GRCh37: Chr6:50786571 GRCh38: Chr6:50818858	TFAP2B		Char syndrome, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13446824.	NM_003221.4(TFAP2B):c.3G>A (p.Met1Ile) GRCh37: Chr6:50786607 GRCh38: Chr6:50818894	TFAP2B	M1I	Craniosynostosis syndrome	Likely pathogenic (Jul 23, 2019)	no assertion criteria provided
Select item 3572725.	NM_003221.4(TFAP2B):c.48T>G (p.Leu16=) GRCh37: Chr6:50786652 GRCh38: Chr6:50818939	TFAP2B		not provided	Likely benign (May 15, 2018)	criteria provided, single submitter
Select item 7480666.	NM_003221.4(TFAP2B):c.82-10C>G GRCh37: Chr6:50791110 GRCh38: Chr6:50823397	TFAP2B		not provided	Likely benign (May 15, 2018)	criteria provided, single submitter
Select item 7465417.	NM_003221.4(TFAP2B):c.82-4C>A GRCh37: Chr6:50791116 GRCh38: Chr6:50823403	TFAP2B		not provided	Likely benign (Mar 30, 2018)	criteria provided, single submitter
Select item 19029618.	NM_003221.4(TFAP2B):c.90C>T (p.His30_Asp31=) GRCh37: Chr6:50791128 GRCh38: Chr6:50823415	TFAP2B		not provided	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 13601169.	NM_003221.4(TFAP2B):c.92A>G (p.Asp31Gly) GRCh37: Chr6:50791130 GRCh38: Chr6:50823417	TFAP2B	D31G	not provided	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 170622810.	NM_003221.4(TFAP2B):c.97G>A (p.Val33Ile) GRCh37: Chr6:50791135 GRCh38: Chr6:50823422	TFAP2B	V33I	not provided	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 193589311.	NM_003221.4(TFAP2B):c.116G>C (p.Arg39Pro) GRCh37: Chr6:50791154 GRCh38: Chr6:50823441	TFAP2B	R39P	not provided	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 141829212.	NM_003221.4(TFAP2B):c.161C>G (p.Ala54Gly) GRCh37: Chr6:50791199 GRCh38: Chr6:50823486	TFAP2B	A54G	not provided	Uncertain significance (Nov 6, 2021)	criteria provided, single submitter
Select item 131241413.	NM_003221.4(TFAP2B):c.179C>A (p.Thr60Asn) GRCh37: Chr6:50791217 GRCh38: Chr6:50823504	TFAP2B	T60N	not provided	Uncertain significance (Feb 12, 2020)	criteria provided, single submitter
Select item 130420314.	NM_003221.4(TFAP2B):c.199C>T (p.Pro67Ser) GRCh37: Chr6:50791237 GRCh38: Chr6:50823524	TFAP2B	P67S	not provided	Uncertain significance (Jan 26, 2021)	criteria provided, single submitter
Select item 804415.	NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg) GRCh37: Chr6:50791256 GRCh38: Chr6:50823543	TFAP2B	P73R	Char syndrome	Pathogenic (Oct 1, 2001)	no assertion criteria provided
Select item 35727316.	NM_003221.4(TFAP2B):c.252C>T (p.Asp84=) GRCh37: Chr6:50791290 GRCh38: Chr6:50823577	TFAP2B		not provided	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 117651217.	NM_003221.4(TFAP2B):c.276dup (p.Tyr93fs) GRCh37: Chr6:50791310-50791311 GRCh38: Chr6:50823597-50823598	TFAP2B	Y93fs	not provided	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 244262718.	NM_003221.4(TFAP2B):c.408C>A (p.Asp136Glu) GRCh37: Chr6:50791446 GRCh38: Chr6:50823733	TFAP2B	D136E	not provided	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 210859119.	NM_003221.4(TFAP2B):c.408C>G (p.Asp136Glu) GRCh37: Chr6:50791446 GRCh38: Chr6:50823733	TFAP2B	D136E	not provided	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 197701120.	NM_003221.4(TFAP2B):c.418G>C (p.Asp140His) GRCh37: Chr6:50791456 GRCh38: Chr6:50823743	TFAP2B	D140H	not provided	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 24301921.	NM_003221.4(TFAP2B):c.439_442del (p.Pro147fs) GRCh37: Chr6:50791472-50791475 GRCh38: Chr6:50823759-50823762	TFAP2B	P147fs	Patent ductus arteriosus 2	Pathogenic (Oct 17, 2016)	no assertion criteria provided
Select item 2135822.	NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu) GRCh37: Chr6:50791482 GRCh38: Chr6:50823769	TFAP2B	D148E	Char syndrome	not provided	no assertion provided
Select item 198159823.	NM_003221.4(TFAP2B):c.477C>T (p.Asp159_Ala160=) GRCh37: Chr6:50791515 GRCh38: Chr6:50823802	TFAP2B		not provided	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 35727624.	NM_003221.4(TFAP2B):c.522C>G (p.Pro174=) GRCh37: Chr6:50791560 GRCh38: Chr6:50823847	TFAP2B		not provided	Likely benign (Aug 16, 2018)	criteria provided, single submitter
Select item 189853225.	NM_003221.4(TFAP2B):c.537C>T (p.Val179_Gln180=) GRCh37: Chr6:50791575 GRCh38: Chr6:50823862	TFAP2B		not provided	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 131494126.	NM_003221.4(TFAP2B):c.540G>A (p.Gln180=) GRCh37: Chr6:50791578 GRCh38: Chr6:50823865	TFAP2B		not provided	Uncertain significance (Feb 10, 2020)	criteria provided, single submitter
Select item 35727727.	NM_003221.4(TFAP2B):c.540+7ACAA[7] GRCh37: Chr6:50791584-50791585 GRCh38: Chr6:50823871-50823872	TFAP2B		not provided, Char syndrome	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 160803228.	NM_003221.4(TFAP2B):c.540+7ACAA[4] GRCh37: Chr6:50791585-50791592 GRCh38: Chr6:50823872-50823879	TFAP2B		not provided	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 25898529.	NM_003221.4(TFAP2B):c.540+7ACAA[5] GRCh37: Chr6:50791585-50791588 GRCh38: Chr6:50823872-50823875	TFAP2B		not specified, not provided, Char syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25898430.	NM_003221.4(TFAP2B):c.540+10A>G GRCh37: Chr6:50791588 GRCh38: Chr6:50823875	TFAP2B		not specified	Benign	criteria provided, single submitter
Select item 126990531.	NM_003221.4(TFAP2B):c.540+14A>G GRCh37: Chr6:50791592 GRCh38: Chr6:50823879	TFAP2B		not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 123509932.	NM_003221.4(TFAP2B):c.540+62G>C GRCh37: Chr6:50791640 GRCh38: Chr6:50823927	TFAP2B		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 54595233.	NM_003221.3(TFAP2B):c.542_545delCAGT GRCh37: Chr6:50796329-50796332 GRCh38: Chr6:50828616-50828619	TFAP2B		not provided	Uncertain significance (May 23, 2018)	criteria provided, single submitter
Select item 24301834.	NM_003221.4(TFAP2B):c.541-2A>T GRCh37: Chr6:50796330 GRCh38: Chr6:50828617	TFAP2B		Patent ductus arteriosus 2	Pathogenic (Oct 17, 2016)	no assertion criteria provided
Select item 208100735.	NM_003221.4(TFAP2B):c.562A>G (p.Ser188Gly) GRCh37: Chr6:50796353 GRCh38: Chr6:50828640	TFAP2B	S188G	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Dec 15, 2022)	criteria provided, conflicting interpretations
Select item 228405236.	NM_003221.4(TFAP2B):c.601+1G>A GRCh37: Chr6:50796393 GRCh38: Chr6:50828680	TFAP2B		Inborn genetic diseases	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 134468337.	NM_003221.4(TFAP2B):c.601+2T>A GRCh37: Chr6:50796394 GRCh38: Chr6:50828681	TFAP2B		Craniosynostosis syndrome	Likely pathogenic (Jul 23, 2019)	no assertion criteria provided
Select item 2135938.	NM_003221.4(TFAP2B):c.601+5G>A GRCh37: Chr6:50796397 GRCh38: Chr6:50828684	TFAP2B		Patent ductus arteriosus 2, Char syndrome	Pathogenic (Feb 22, 2005)	no assertion criteria provided
Select item 193741139.	NM_003221.4(TFAP2B):c.601+15C>T GRCh37: Chr6:50796407 GRCh38: Chr6:50828694	TFAP2B		not provided	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 124465740.	NM_003221.4(TFAP2B):c.601+242A>G GRCh37: Chr6:50796634 GRCh38: Chr6:50828921	TFAP2B		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 168349641.	NM_003221.4(TFAP2B):c.602-5_606del GRCh38: Chr6:50836056-50836065	TFAP2B		Chronic intestinal pseudoobstruction	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 130358342.	NM_003221.4(TFAP2B):c.613C>T (p.Pro205Ser) GRCh37: Chr6:50803785 GRCh38: Chr6:50836072	TFAP2B	P205S	not provided	Uncertain significance (Oct 30, 2020)	criteria provided, single submitter
Select item 59904043.	NM_003221.4(TFAP2B):c.650del (p.Gly217fs) GRCh37: Chr6:50803821 GRCh38: Chr6:50836108	TFAP2B	G217fs	Char syndrome	Pathogenic (Nov 14, 2017)	criteria provided, single submitter
Select item 213629744.	NM_003221.4(TFAP2B):c.670G>A (p.Val224Ile) GRCh37: Chr6:50803842 GRCh38: Chr6:50836129	TFAP2B	V224I	Inborn genetic diseases, not provided	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130741145.	NM_003221.4(TFAP2B):c.691T>C (p.Cys231Arg) GRCh37: Chr6:50803863 GRCh38: Chr6:50836150	TFAP2B	C231R	not provided	Uncertain significance (Jul 26, 2019)	criteria provided, single submitter
Select item 804246.	NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser) GRCh37: Chr6:50803878 GRCh38: Chr6:50836165	TFAP2B	R236S	Char syndrome	Pathogenic (Oct 1, 2001)	no assertion criteria provided
Select item 804147.	NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys) GRCh37: Chr6:50803878 GRCh38: Chr6:50836165	TFAP2B	R236C	Char syndrome	Pathogenic (Oct 1, 2001)	no assertion criteria provided
Select item 132692748.	NM_003221.4(TFAP2B):c.707G>A (p.Arg236His) GRCh37: Chr6:50803879 GRCh38: Chr6:50836166	TFAP2B	R236H	Char syndrome	Likely pathogenic (Oct 22, 2021)	no assertion criteria provided
Select item 154964249.	NM_003221.4(TFAP2B):c.720C>G (p.Leu240=) GRCh37: Chr6:50803892 GRCh38: Chr6:50836179	TFAP2B		not provided	Likely benign (Apr 26, 2021)	criteria provided, single submitter
Select item 2136050.	NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala) GRCh37: Chr6:50803944 GRCh38: Chr6:50836231	TFAP2B	S258A	Char syndrome	not provided	no assertion provided
Select item 208252051.	NM_003221.4(TFAP2B):c.801C>T (p.Leu267_Leu268=) GRCh37: Chr6:50803973 GRCh38: Chr6:50836260	TFAP2B		not provided	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 190495552.	NM_003221.4(TFAP2B):c.821+15AAAAAC[2] GRCh37: Chr6:50804008-50804013 GRCh38: Chr6:50836295-50836300	TFAP2B		not provided	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 2136153.	NM_003221.4(TFAP2B):c.822-1G>C GRCh37: Chr6:50805687 GRCh38: Chr6:50837974	TFAP2B		Char syndrome	not provided	no assertion provided
Select item 803954.	NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) GRCh37: Chr6:50805690 GRCh38: Chr6:50837977	TFAP2B	A275D	Char syndrome	Pathogenic (Nov 20, 2019)	criteria provided, single submitter
Select item 134468455.	NM_003221.4(TFAP2B):c.827A>G (p.Lys276Arg) GRCh37: Chr6:50805693 GRCh38: Chr6:50837980	TFAP2B	K276R	Craniosynostosis syndrome	Likely pathogenic (Jul 23, 2019)	no assertion criteria provided
Select item 37417456.	NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp) GRCh37: Chr6:50805696 GRCh38: Chr6:50837983	TFAP2B	S277W	Char syndrome, Bifid nasal tip, Upslanted palpebral fissure, Hypertelorism, Clinodactyly of the 5th finger, Opacification of the corneal stroma	Uncertain significance (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 804357.	NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) GRCh37: Chr6:50805720 GRCh38: Chr6:50838007	TFAP2B	R285Q	not provided, Char syndrome	Pathogenic/Likely pathogenic (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169622358.	NM_003221.4(TFAP2B):c.861G>C (p.Arg287Ser) GRCh37: Chr6:50805727 GRCh38: Chr6:50838014	TFAP2B	R287S	not specified	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 804059.	NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys) GRCh37: Chr6:50805764 GRCh38: Chr6:50838051	TFAP2B	R300C	Char syndrome	Pathogenic (May 1, 2000)	no assertion criteria provided
Select item 59923460.	NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) GRCh37: Chr6:50805783 GRCh38: Chr6:50838070	TFAP2B	T306M	Char syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127498661.	NM_003221.4(TFAP2B):c.940+136T>G GRCh37: Chr6:50805942 GRCh38: Chr6:50838229	TFAP2B		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 222501162.	NM_003221.4(TFAP2B):c.969T>G (p.Phe323Leu) GRCh37: Chr6:50807897 GRCh38: Chr6:50840184	TFAP2B	F323L	Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 130575563.	NM_003221.4(TFAP2B):c.971G>C (p.Gly324Ala) GRCh37: Chr6:50807899 GRCh38: Chr6:50840186	TFAP2B	G324A	not provided	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 228661364.	NM_003221.4(TFAP2B):c.982G>C (p.Glu328Gln) GRCh37: Chr6:50807910 GRCh38: Chr6:50840197	TFAP2B	E328Q	Inborn genetic diseases	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 164870565.	NM_003221.4(TFAP2B):c.997G>T (p.Ala333Ser) GRCh37: Chr6:50807925 GRCh38: Chr6:50840212	TFAP2B	A333S	not provided	Likely benign (Oct 11, 2021)	criteria provided, single submitter
Select item 72442566.	NM_003221.4(TFAP2B):c.1005C>T (p.Ala335=) GRCh37: Chr6:50807933 GRCh38: Chr6:50840220	TFAP2B		not provided	Likely benign (Jul 16, 2018)	criteria provided, single submitter
Select item 35728167.	NM_003221.4(TFAP2B):c.1006G>A (p.Val336Ile) GRCh37: Chr6:50807934 GRCh38: Chr6:50840221	TFAP2B	V336I	not provided	Benign (Jan 17, 2020)	criteria provided, single submitter
Select item 190534768.	NM_003221.4(TFAP2B):c.1038C>A (p.Asp346Glu) GRCh37: Chr6:50807966 GRCh38: Chr6:50840253	TFAP2B	D346E	not provided	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 122189569.	NM_003221.4(TFAP2B):c.1083-308T>C GRCh37: Chr6:50810497 GRCh38: Chr6:50842784	TFAP2B		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 75577870.	NM_003221.4(TFAP2B):c.1104G>C (p.Thr368=) GRCh37: Chr6:50810826 GRCh38: Chr6:50843113	TFAP2B		not provided	Benign (Aug 12, 2022)	criteria provided, single submitter
Select item 102809471.	NM_003221.4(TFAP2B):c.1105G>C (p.Asp369His) GRCh37: Chr6:50810827 GRCh38: Chr6:50843114	TFAP2B	D369H	Char syndrome	Uncertain significance (Feb 13, 2019)	criteria provided, single submitter
Select item 72546472.	NM_003221.4(TFAP2B):c.1116G>T (p.Ala372=) GRCh37: Chr6:50810838 GRCh38: Chr6:50843125	TFAP2B		not provided	Likely benign (Nov 14, 2017)	criteria provided, single submitter
Select item 134468573.	NM_003221.4(TFAP2B):c.1144C>T (p.Arg382Ter) GRCh37: Chr6:50810866 GRCh38: Chr6:50843153	TFAP2B	R382*	Craniosynostosis syndrome	Likely pathogenic (Jul 23, 2019)	no assertion criteria provided
Select item 35728374.	NM_003221.4(TFAP2B):c.1159C>T (p.Leu387=) GRCh37: Chr6:50810881 GRCh38: Chr6:50843168	TFAP2B		not provided	Benign (Aug 28, 2022)	criteria provided, single submitter
Select item 146453975.	NM_003221.4(TFAP2B):c.1193T>C (p.Phe398Ser) GRCh37: Chr6:50810915 GRCh38: Chr6:50843202	TFAP2B	F398S	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 211552476.	NM_003221.4(TFAP2B):c.1242C>G (p.Leu414_Thr415=) GRCh37: Chr6:50810964 GRCh38: Chr6:50843251	TFAP2B		not provided	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 166613377.	NM_003221.4(TFAP2B):c.1245G>T (p.Thr415=) GRCh37: Chr6:50810967 GRCh38: Chr6:50843254	TFAP2B		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 203883978.	NM_003221.4(TFAP2B):c.1289A>T (p.Lys430Met) GRCh37: Chr6:50811011 GRCh38: Chr6:50843298	TFAP2B	K430M	not provided	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 180383179.	NM_003221.4(TFAP2B):c.1302C>G (p.Asn434Lys) GRCh37: Chr6:50811024 GRCh38: Chr6:50843311	TFAP2B	N434K	Char syndrome, Patent ductus arteriosus 2	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 35728680.	NM_003221.4(TFAP2B):c.1304A>C (p.Asn435Thr) GRCh37: Chr6:50811026 GRCh38: Chr6:50843313	TFAP2B	N435T	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 193742381.	NM_003221.4(TFAP2B):c.1317C>T (p.Asn439_Arg440=) GRCh37: Chr6:50811039 GRCh38: Chr6:50843326	TFAP2B		not provided	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 25898382.	NM_003221.4(TFAP2B):c.*10A>T GRCh37: Chr6:50811115 GRCh38: Chr6:50843402	TFAP2B		not specified, not provided	Benign (May 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35728783.	NM_003221.4(TFAP2B):c.*15AAG[1] GRCh37: Chr6:50811120-50811122 GRCh38: Chr6:50843407-50843409	TFAP2B		Char syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 128567684.	NM_003221.4(TFAP2B):c.*136del GRCh37: Chr6:50811238 GRCh38: Chr6:50843525	TFAP2B		not provided	Benign (May 19, 2021)	criteria provided, single submitter
Select item 35728985.	NM_003221.4(TFAP2B):c.135_136del GRCh37: Chr6:50811238-50811239 GRCh38: Chr6:50843525-50843526	TFAP2B		Char syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 126568486.	NM_003221.4(TFAP2B):c.*136T>A GRCh37: Chr6:50811241 GRCh38: Chr6:50843528	TFAP2B		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 128414987.	NM_003221.4(TFAP2B):c.*178C>T GRCh37: Chr6:50811283 GRCh38: Chr6:50843570	TFAP2B		not provided	Benign (May 19, 2021)	criteria provided, single submitter
Select item 35729988.	NM_003221.4(TFAP2B):c.910_911del GRCh37: Chr6:50812004-50812005 GRCh38: Chr6:50844291-50844292	TFAP2B		Char syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35729889.	NM_003221.4(TFAP2B):c.*911del GRCh37: Chr6:50812004 GRCh38: Chr6:50844291	TFAP2B		not provided, Char syndrome	Conflicting interpretations of pathogenicity (May 17, 2021)	criteria provided, conflicting interpretations
Select item 125996590.	NM_003221.4(TFAP2B):c.*910A>C GRCh37: Chr6:50812015 GRCh38: Chr6:50844302	TFAP2B		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 35730291.	NM_003221.4(TFAP2B):c.910_911insC GRCh37: Chr6:50812015-50812016 GRCh38: Chr6:50844302-50844303	TFAP2B		Char syndrome, not provided	Conflicting interpretations of pathogenicity (May 15, 2021)	criteria provided, conflicting interpretations
Select item 35730192.	NM_003221.4(TFAP2B):c.*912CA[8] GRCh37: Chr6:50812015-50812016 GRCh38: Chr6:50844302-50844303	TFAP2B		Char syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35730093.	NM_003221.4(TFAP2B):c.911_915del GRCh37: Chr6:50812015-50812019 GRCh38: Chr6:50844302-50844306	TFAP2B		Char syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35730494.	NM_003221.4(TFAP2B):c.*912CA[5] GRCh37: Chr6:50812016-50812019 GRCh38: Chr6:50844303-50844306	TFAP2B		Char syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35730395.	NM_003221.4(TFAP2B):c.*912CA[6] GRCh37: Chr6:50812016-50812017 GRCh38: Chr6:50844303-50844304	TFAP2B		Char syndrome, not provided	Conflicting interpretations of pathogenicity (May 16, 2021)	criteria provided, conflicting interpretations
Select item 122505596.	NM_003221.4(TFAP2B):c.*912del GRCh37: Chr6:50812017 GRCh38: Chr6:50844304	TFAP2B		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 35730597.	NM_003221.4(TFAP2B):c.912_916del GRCh37: Chr6:50812017-50812021 GRCh38: Chr6:50844304-50844308	TFAP2B		Char syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35731398.	NM_003221.4(TFAP2B):c.*1427del GRCh37: Chr6:50812530 GRCh38: Chr6:50844817	TFAP2B		Char syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35731499.	NM_003221.4(TFAP2B):c.*1644del GRCh37: Chr6:50812748 GRCh38: Chr6:50845035	TFAP2B		Char syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 357322100.	NM_003221.4(TFAP2B):c.*1938dup GRCh37: Chr6:50813038-50813039 GRCh38: Chr6:50845325-50845326	TFAP2B		Char syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter

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