PAX9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 147567	GRCh38/hg38 14q13.2-13.3(chr14:35514078-36814016)x1	BRMS1L, INSM2 +26 more	Copy number loss	See cases	GPathogenic
Select item 154357	GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3	LOC108281111, LOC110120901 +19 more	Copy number gain	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	See cases	GPathogenic
Select item 150975	GRCh38/hg38 14q13.3(chr14:36484306-36677450)x3	LOC108281111, LOC110121326 +6 more	Copy number gain	See cases	GLikely benign
Select item 151241	GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1	LOC108281111, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
Select item 13769	NC_000014.9:g.(36613381_36657568)_(36679362_?)del	LOC108281111, PAX9 +1 more	Deletion	Tooth agenesis, selective, 3	GPathogenic
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 313151	NM_006194.4(PAX9):c.-656C>G	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GLikely benign
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 313152	NM_006194.4(PAX9):c.-626dup	PAX9	Duplication (5 prime UTR variant)	Selective tooth agenesis	GLikely benign
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 313154	NM_006194.4(PAX9):c.-488C>T	PAX9	Single nucleotide variant (5 prime UTR 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 +1 more	GBenign
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 1597367	NC_000014.9:g.36659359C>A	PAX9	Single nucleotide variant (intron variant)	Partial congenital absence of teeth	GBenign
Select item 1277566	NM_006194.4(PAX9):c.-393-1028A>G	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264409	NM_006194.4(PAX9):c.-393-972C>G	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247478	NM_006194.4(PAX9):c.-393-909C>T	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035331	NM_006194.4(PAX9):c.-393-874dup	LOC108281111, PAX9	Duplication (intron variant)	PAX9-related disorder	GLikely benign
Select item 1241041	NM_006194.4(PAX9):c.-393-738T>C	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291772	NM_006194.4(PAX9):c.-393-157C>T	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 313159	NM_006194.4(PAX9):c.-244G>T	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 313161	NM_001372076.1(PAX9):c.-186C>A	PAX9	Single nucleotide variant (5 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 313162	NM_001372076.1(PAX9):c.-119A>T	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
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 313163	NM_001372076.1(PAX9):c.-65G>A	PAX9	Single nucleotide variant (5 prime UTR variant)	Tooth agenesis, selective, 3	GUncertain significance
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 649310	NM_001372076.1(PAX9):c.2T>A (p.Met1Lys)	PAX9 (M1K)	Single nucleotide variant (missense variant +1 more)	Partial congenital absence of teeth	GPathogenic
Select item 430692	NM_006194.3(PAX9):c.3G>A (p.Met1Ile)	PAX9	Single nucleotide variant	Tooth agenesis, selective, 3	GPathogenic
Select item 3030665	NM_001372076.1(PAX9):c.4+10G>A	PAX9	Single nucleotide variant (intron variant)	PAX9-related disorder	GLikely benign
Select item 145602	GRCh38/hg38 14q13.3(chr14:36662199-36671907)x3	PAX9	Copy number gain	See cases	GLikely benign
Select item 1242268	NM_001372076.1(PAX9):c.5-109G>C	PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235428	NM_001372076.1(PAX9):c.5-82G>A	PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223900	NM_001372076.1(PAX9):c.5-54A>G	PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296023	NM_001372076.1(PAX9):c.5-41A>G	PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
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 2281918	NM_001372076.1(PAX9):c.22G>A (p.Val8Met)	PAX9 (V8M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1309239	NM_001372076.1(PAX9):c.25A>G (p.Asn9Asp)	PAX9 (N9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576140	NM_001372076.1(PAX9):c.28C>A (p.Gln10Lys)	PAX9 (Q10K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169469	NM_001372076.1(PAX9):c.30G>A (p.Gln10=)	PAX9	Single nucleotide variant (synonymous variant)	Partial congenital absence of teeth	GBenign
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 375454	NM_001372076.1(PAX9):c.59C>T (p.Pro20Leu)	PAX9 (P20L)	Single nucleotide variant (missense variant)	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 1076521	NM_001372076.1(PAX9):c.72_76dup (p.Arg26fs)	PAX9 (R26fs)	Duplication (frameshift variant)	Partial congenital absence of teeth	GPathogenic
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 1999853	NM_001372076.1(PAX9):c.77G>A (p.Arg26Gln)	PAX9 (R26Q)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
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 955304	NM_001372076.1(PAX9):c.99_116del (p.Gln34_Pro39del)	PAX9	Deletion (inframe_deletion)	Partial congenital absence of teeth	GUncertain significance
Select item 418946	NM_001372076.1(PAX9):c.114_117dup (p.Cys40fs)	PAX9 (C40fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 3032155	NM_001372076.1(PAX9):c.130C>T (p.Arg44Cys)	PAX9 (R44C)	Single nucleotide variant (missense variant)	PAX9-related disorder	GUncertain significance
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 2636409	NM_001372076.1(PAX9):c.139del (p.Arg47fs)	PAX9 (R47fs)	Deletion (frameshift variant)	PAX9-related disorder	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 1064705	NM_001372076.1(PAX9):c.140G>C (p.Arg47Pro)	PAX9 (R47P)	Single nucleotide variant (missense variant)	Oligodontia	GPathogenic
Select item 1064704	NM_001372076.1(PAX9):c.146C>T (p.Ser49Leu)	PAX9 (S49L)	Single nucleotide variant (missense variant)	Oligodontia	GPathogenic
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 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 1119978	NM_001372076.1(PAX9):c.152G>T (p.Gly51Val)	PAX9 (G51V)	Single nucleotide variant (missense variant)	Oligodontia	GPathogenic
Select item 2718535	NM_001372076.1(PAX9):c.156C>T (p.Cys52=)	PAX9	Single nucleotide variant (synonymous variant)	Partial congenital absence of teeth	GLikely benign
Select item 13772	NM_001372076.1(PAX9):c.176_182delinsAGCCACACAGTCTTGCCACACACAGTCTTCTGCCTCATCTCAAACTACCAGACCCATAACATCCCCCCATCCCAACACATGGTTCGCATTTTCCACCTCCCCCGCCTCTCGCGCCGAGGCAGCCTCAGCCCGGCTTGCTCACTTGGAGAGTGCGGCCGGGGCTGGACTTGGGGCGCAGCCCGGGAGGCCCGAGCCTGCTTGGGGCTGCCGGCTGCAGACTCCGCTGTGGGCAGAGCAGCTTGCTTGGGGACTACTACGGCCGGGATCGGTAATCAGGCCAAGAT (p.Arg59_Asn61delinsGlnProHisSerLeuAlaThrHisSerLeuLeuProHisLeuLysLeuProAspProTer)	PAX9	Indel (nonsense)	Tooth agenesis, selective, 3	GPathogenic
Select item 526772	NM_001372076.1(PAX9):c.180C>A (p.Tyr60Ter)	PAX9 (Y60*)	Single nucleotide variant (nonsense)	Partial congenital absence of teeth	GPathogenic
Select item 1376418	NM_001372076.1(PAX9):c.184G>A (p.Glu62Lys)	PAX9 (E62K)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
Select item 521563	NM_001372076.1(PAX9):c.188C>G (p.Thr63Arg)	PAX9 (T63R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577030	NM_001372076.1(PAX9):c.191del (p.Gly64fs)	PAX9 (G64fs)	Deletion (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 883962	NM_001372076.1(PAX9):c.192C>T (p.Gly64=)	PAX9	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 3	GUncertain significance
Select item 13767	NM_001372076.1(PAX9):c.218dup (p.Ser74fs)	PAX9 (S74fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 521952	NM_001372076.1(PAX9):c.217G>T (p.Gly73Cys)	PAX9 (G73C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300262	NM_001372076.1(PAX9):c.218G>T (p.Gly73Val)	PAX9 (G73V)	Single nucleotide variant (missense variant)	not provided	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 2002337	NM_001372076.1(PAX9):c.232G>C (p.Val78Leu)	PAX9 (V78L)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
Select item 1064706	NM_001372076.1(PAX9):c.243del (p.Thr82fs)	PAX9 (T82fs)	Deletion (frameshift variant)	Oligodontia	GPathogenic
Select item 2575940	NM_001372076.1(PAX9):c.247G>T (p.Val83Leu)	PAX9 (V83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721820	NM_001372076.1(PAX9):c.248T>G (p.Val83Gly)	PAX9 (V83G)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
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 13770	NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu)	PAX9 (K91E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2094636	NM_001372076.1(PAX9):c.285del (p.Gly96fs)	PAX9 (G96fs)	Deletion (frameshift variant)	Partial congenital absence of teeth	GPathogenic
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 1009882	NM_001372076.1(PAX9):c.290T>A (p.Ile97Asn)	PAX9 (I97N)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
Select item 2577677	NM_001372076.1(PAX9):c.295G>T (p.Ala99Ser)	PAX9 (A99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577031	NM_001372076.1(PAX9):c.305del (p.Ile102fs)	PAX9 (I102fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 3	GLikely pathogenic
Select item 373036	NM_001372076.1(PAX9):c.325_331dup (p.Val111fs)	PAX9 (V111fs)	Duplication (frameshift variant)	not provided	GPathogenic
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

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