ClinVar for MedGen (Select 410035) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577033	NM_001372076.1(PAX9):c.395del (p.Gly132fs)	PAX9 (G132fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 2577032	NM_001372076.1(PAX9):c.365C>A (p.Ser122Tyr)	PAX9 (S122Y)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 2577031	NM_001372076.1(PAX9):c.305del (p.Ile102fs)	PAX9 (I102fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 2577030	NM_001372076.1(PAX9):c.191del (p.Gly64fs)	PAX9 (G64fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 2577026	NM_001372076.1(PAX9):c.112C>T (p.Arg38Ter)	PAX9 (R38*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 3	GPathogenic
Select item 2577025	NM_001372076.1(PAX9):c.133_136del (p.Gln45fs)	PAX9 (Q45fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 1697312	NM_001372076.1(PAX9):c.487_490dup (p.Ser164fs)	PAX9 (S164fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 1693562	NM_001372076.1(PAX9):c.191G>T (p.Gly64Val)	PAX9 (G64V)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 1693561	NM_001372076.1(PAX9):c.648dup (p.Tyr217fs)	PAX9 (Y217fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 1693560	NM_001372076.1(PAX9):c.354del (p.Ser119fs)	PAX9 (S119fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 1341363	NM_001372076.1(PAX9):c.350T>G (p.Val117Gly)	PAX9 (V117G)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 975792	NM_001372076.1(PAX9):c.230G>A (p.Arg77Gln)	PAX9 (R77Q)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 884034	NM_001372076.1(PAX9):c.*1066A>C	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 884033	NM_001372076.1(PAX9):c.*825T>G	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 884032	NM_001372076.1(PAX9):c.*775C>T	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 884031	NM_001372076.1(PAX9):c.*663C>T	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 884030	NM_001372076.1(PAX9):c.*640T>G	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 883963	NM_001372076.1(PAX9):c.323C>T (p.Ala108Val)	PAX9 (A108V)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 883962	NM_001372076.1(PAX9):c.192C>T (p.Gly64=)	PAX9	Single nucleotide variant (synonymous variant)	PAX9-related condition +1 more	GConflicting classifications of pathogenicity
Select item 883961	NM_001372076.1(PAX9):c.-67A>G	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 883234	NM_001372076.1(PAX9):c.*506A>G	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 883233	NM_001372076.1(PAX9):c.*288C>G	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 883181	NM_001372076.1(PAX9):c.-175G>C	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GLikely benign
Select item 882086	NM_001372076.1(PAX9):c.*257G>A	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 882085	NM_001372076.1(PAX9):c.*59C>G	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 882084	NM_001372076.1(PAX9):c.*12G>T	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GLikely benign
Select item 882083	NM_001372076.1(PAX9):c.750G>T (p.Glu250Asp)	PAX9 (E250D)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3 +1 more	GUncertain significance
Select item 882016	NM_006194.4(PAX9):c.-644G>A	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 880672	NM_001372076.1(PAX9):c.689G>A (p.Arg230His)	PAX9 (R230H)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 880671	NM_001372076.1(PAX9):c.600C>T (p.Asp200=)	PAX9	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 666317	NM_001372076.1(PAX9):c.51C>G (p.Asn17Lys)	PAX9 (N17K)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 456653	NM_001372076.1(PAX9):c.609C>T (p.Gly203=)	PAX9	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 3 +3 more	GConflicting classifications of pathogenicity
Select item 430692	NM_006194.3(PAX9):c.3G>A (p.Met1Ile)	PAX9	Single nucleotide variant	Tooth agenesis, selective, 3	GPathogenic
Select item 375454	NM_001372076.1(PAX9):c.59C>T (p.Pro20Leu)	PAX9 (P20L)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 313185	NM_001372076.1(PAX9):c.*902G>A	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GLikely benign
Select item 313184	NM_001372076.1(PAX9):c.*901C>T	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GBenign
Select item 313183	NM_001372076.1(PAX9):c.*818C>T	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GBenign
Select item 313182	NM_001372076.1(PAX9):c.*554G>C	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GBenign
Select item 313180	NM_001372076.1(PAX9):c.*511T>C	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313179	NM_001372076.1(PAX9):c.*429T>C	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GBenign
Select item 313177	NM_001372076.1(PAX9):c.*328T>A	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313176	NM_001372076.1(PAX9):c.*263A>G	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313175	NM_001372076.1(PAX9):c.*259C>T	PAX9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 313174	NM_001372076.1(PAX9):c.*231T>G	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313173	NM_001372076.1(PAX9):c.*206T>C	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3 +1 more	GBenign
Select item 313172	NM_001372076.1(PAX9):c.1020G>A (p.Ala340=)	PAX9	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313171	NM_001372076.1(PAX9):c.717C>T (p.His239=)	PAX9	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 3 +2 more	GBenign
Select item 313170	NM_001372076.1(PAX9):c.623C>G (p.Thr208Ser)	PAX9 (T208S)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3 +1 more	GBenign/Likely benign
Select item 313169	NM_001372076.1(PAX9):c.524C>T (p.Thr175Met)	PAX9 (T175M)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3 +1 more	GUncertain significance
Select item 313168	NM_001372076.1(PAX9):c.516G>A (p.Lys172=)	PAX9	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 3 +2 more	GBenign/Likely benign
Select item 313167	NM_001372076.1(PAX9):c.511G>A (p.Ala171Thr)	PAX9 (A171T)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth +1 more	GConflicting classifications of pathogenicity
Select item 313166	NM_001372076.1(PAX9):c.289A>C (p.Ile97Leu)	PAX9 (I97L)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313165	NM_001372076.1(PAX9):c.150C>T (p.His50=)	PAX9	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313164	NM_001372076.1(PAX9):c.6G>A (p.Glu2=)	PAX9	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313163	NM_001372076.1(PAX9):c.-65G>A	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313162	NM_001372076.1(PAX9):c.-119A>T	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313161	NM_001372076.1(PAX9):c.-186C>A	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313160	NM_001372076.1(PAX9):c.-218G>A	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313159	NM_006194.4(PAX9):c.-244G>T	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313158	NM_006194.4(PAX9):c.-321C>A	LOC108281111, PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313157	NM_006194.4(PAX9):c.-338C>T	LOC108281111, PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313156	NM_006194.4(PAX9):c.-394+15G>C	PAX9	Single nucleotide variant (intron variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313155	NM_006194.4(PAX9):c.-455C>G	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GBenign
Select item 313154	NM_006194.4(PAX9):c.-488C>T	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313153	NM_006194.4(PAX9):c.-553C>A	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 313151	NM_006194.4(PAX9):c.-656C>G	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GLikely benign
Select item 313150	NM_006194.4(PAX9):c.-719C>T	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 259937	NM_001372076.1(PAX9):c.718G>C (p.Ala240Pro)	PAX9 (A240P)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3 +3 more	GBenign
Select item 155939	NM_001372076.1(PAX9):c.336C>G (p.Cys112Trp)	PAX9 (C112W)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 13781	NM_001372076.1(PAX9):c.139C>T (p.Arg47Trp)	PAX9 (R47W)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 13780	PAX9, 1-BP INS, 190G	PAX9	Insertion	Tooth agenesis, selective, 3	GPathogenic
Select item 13779	NM_001372076.1(PAX9):c.151G>A (p.Gly51Ser)	PAX9 (G51S)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
Select item 13778	NM_001372076.1(PAX9):c.619_621delinsTACCGACCAAGGTAGGGCATCCCT (p.Ile207delinsTyrArgProArgTer)	PAX9	Indel (nonsense)	Tooth agenesis, selective, 3	GPathogenic
Select item 13777	NM_001372076.1(PAX9):c.1A>G (p.Met1Val)	PAX9 (M1V)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis, selective, 3	GPathogenic
Select item 13776	NM_001372076.1(PAX9):c.792_793insC (p.Val265fs)	PAX9 (V265fs)	Insertion (frameshift variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 13775	NM_001372076.1(PAX9):c.259A>T (p.Ile87Phe)	PAX9 (I87F)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
Select item 13774	NM_001372076.1(PAX9):c.76C>T (p.Arg26Trp)	PAX9 (R26W)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GPathogenic
Select item 13773	NM_001372076.1(PAX9):c.83G>C (p.Arg28Pro)	PAX9 (R28P)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 13772	NM_001372076.1(PAX9):c.176_182delinsAGCCACACAGTCTTGCCACACACAGTCTTCTGCCTCATCTCAAACTACCAGACCCATAACATCCCCCCATCCCAACACATGGTTCGCATTTTCCACCTCCCCCGCCTCTCGCGCCGAGGCAGCCTCAGCCCGGCTTGCTCACTTGGAGAGTGCGGCCGGGGCTGGACTTGGGGCGCAGCCCGGGAGGCCCGAGCCTGCTTGGGGCTGCCGGCTGCAGACTCCGCTGTGGGCAGAGCAGCTTGCTTGGGGACTACTACGGCCGGGATCGGTAATCAGGCCAAGAT (p.Arg59_Asn61delinsGlnProHisSerLeuAlaThrHisSerLeuLeuProHisLeuLysLeuProAspProTer)	PAX9	Indel (nonsense)	Tooth agenesis, selective, 3	GPathogenic
Select item 13771	NM_001372076.1(PAX9):c.62T>C (p.Leu21Pro)	PAX9 (L21P)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 13770	NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu)	PAX9 (K91E)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth +2 more	GConflicting classifications of pathogenicity
Select item 13769	NC_000014.9:g.(36613381_36657568)_(36679362_?)del	LOC108281111, PAX9 +1 more	Deletion	Tooth agenesis, selective, 3	GPathogenic
Select item 13768	NM_001372076.1(PAX9):c.340A>T (p.Lys114Ter)	PAX9 (K114*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 3	GPathogenic
Select item 13767	NM_001372076.1(PAX9):c.218dup (p.Ser74fs)	PAX9 (S74fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 3	GPathogenic

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Items: 84