ClinVar for Gene (Select 5083) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244100	NC_000014.8:g.(?_36986483)_(37203798_?)dup	NKX2-1, NKX2-8 +2 more	Duplication	not provided	GUncertain significance
Select item 3244062	NC_000014.8:g.(?_36986483)_(37489008_?)del	NKX2-1, NKX2-8 +2 more	Deletion	not provided	GPathogenic
Select item 3243943	NC_000014.8:g.(?_37135647)_(37135826_?)del	PAX9	Deletion	Partial congenital absence of teeth	GPathogenic
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3057731	NM_001372076.1(PAX9):c.504G>A (p.Ala168=)	PAX9	Single nucleotide variant (synonymous variant)	PAX9-related disorder	GLikely benign
Select item 3035331	NM_006194.4(PAX9):c.-393-874dup	LOC108281111, PAX9	Duplication (intron variant)	PAX9-related disorder	GLikely benign
Select item 3032991	NM_001372076.1(PAX9):c.514_516delinsCAA (p.Lys172Gln)	PAX9 (K172Q)	Indel (missense variant)	PAX9-related disorder	GUncertain significance
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 3030665	NM_001372076.1(PAX9):c.4+10G>A	PAX9	Single nucleotide variant (intron variant)	PAX9-related disorder	GLikely benign
Select item 3022099	NM_001372076.1(PAX9):c.393C>T (p.Ile131=)	PAX9	Single nucleotide variant (synonymous variant)	Partial congenital absence of teeth	GLikely benign
Select item 2884849	NM_001372076.1(PAX9):c.954G>A (p.Pro318=)	PAX9	Single nucleotide variant (synonymous variant)	Partial congenital absence of teeth	GLikely benign
Select item 2857478	NM_001372076.1(PAX9):c.437A>G (p.His146Arg)	PAX9 (H146R)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
Select item 2849976	NM_001372076.1(PAX9):c.565C>T (p.Pro189Ser)	PAX9 (P189S)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
Select item 2821128	NM_001372076.1(PAX9):c.772-2A>G	PAX9	Single nucleotide variant (splice acceptor variant)	Partial congenital absence of teeth	GUncertain significance
Select item 2814643	NM_001372076.1(PAX9):c.771+3G>T	PAX9	Single nucleotide variant (intron variant)	Partial congenital absence of teeth	GUncertain significance
Select item 2738276	NM_001372076.1(PAX9):c.480C>T (p.Tyr160=)	PAX9	Single nucleotide variant (synonymous variant)	Partial congenital absence of teeth	GLikely benign
Select item 2730464	NM_001372076.1(PAX9):c.606G>A (p.Leu202=)	PAX9	Single nucleotide variant (synonymous variant)	Partial congenital absence of teeth	GLikely benign
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 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2671803	NM_001372076.1(PAX9):c.637dup (p.Asp213fs)	PAX9 (D213fs)	Duplication (frameshift variant)	Oligodontia	GPathogenic
Select item 2671802	NM_001372076.1(PAX9):c.771G>A (p.Gln257=)	PAX9	Single nucleotide variant (synonymous variant)	Oligodontia	GPathogenic
Select item 2636409	NM_001372076.1(PAX9):c.139del (p.Arg47fs)	PAX9 (R47fs)	Deletion (frameshift variant)	PAX9-related disorder	GPathogenic
Select item 2630589	NM_001372076.1(PAX9):c.508_511dup (p.Ala171fs)	PAX9 (A171fs)	Duplication (frameshift variant)	PAX9-related disorder	GLikely pathogenic
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 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 2576140	NM_001372076.1(PAX9):c.28C>A (p.Gln10Lys)	PAX9 (Q10K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2486001	NM_001372076.1(PAX9):c.709G>T (p.Ala237Ser)	PAX9 (A237S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474881	NM_001372076.1(PAX9):c.775C>T (p.Pro259Ser)	PAX9 (P259S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425522	NC_000014.8:g.(?_37145383)_(37641555_?)del	PAX9, SLC25A21	Deletion	Partial congenital absence of teeth	GUncertain significance
Select item 2416543	NM_001372076.1(PAX9):c.771+20G>T	PAX9	Single nucleotide variant (intron variant)	Partial congenital absence of teeth	GLikely benign
Select item 2353429	NM_001372076.1(PAX9):c.1007T>C (p.Val336Ala)	PAX9 (V336A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290358	NM_001372076.1(PAX9):c.1013C>T (p.Ala338Val)	PAX9 (A338V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2278678	NM_001372076.1(PAX9):c.930G>T (p.Leu310Phe)	PAX9 (L310F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179288	NM_001372076.1(PAX9):c.343T>C (p.Tyr115His)	PAX9 (Y115H)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GUncertain significance
Select item 2094636	NM_001372076.1(PAX9):c.285del (p.Gly96fs)	PAX9 (G96fs)	Deletion (frameshift variant)	Partial congenital absence of teeth	GPathogenic
Select item 2055778	NM_001372076.1(PAX9):c.458C>A (p.Ala153Glu)	PAX9 (A153E)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth +1 more	GUncertain significance
Select item 2022895	NM_001372076.1(PAX9):c.593_596dup (p.Asp200fs)	PAX9 (D200fs)	Duplication (frameshift variant)	Partial congenital absence of teeth	GPathogenic
Select item 2019454	NM_001372076.1(PAX9):c.438C>T (p.His146=)	PAX9	Single nucleotide variant (synonymous variant)	Partial congenital absence of teeth	GLikely benign
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 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 1908697	NM_001372076.1(PAX9):c.569G>A (p.Arg190His)	PAX9 (R190H)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	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 1710579	NM_001372076.1(PAX9):c.433C>T (p.Gln145Ter)	PAX9 (Q145*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
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 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1597367	NM_006194.4(PAX9):c.-394+1459C>A	PAX9	Single nucleotide variant (intron variant)	Partial congenital absence of teeth	GBenign
Select item 1527811	GRCh37/hg19 14q13.3(chr14:36933561-37247672)	NKX2-1, NKX2-8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527810	GRCh37/hg19 14q13.3(chr14:36924877-37247672)	NKX2-1, NKX2-8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527809	GRCh37/hg19 14q13.3-21.1(chr14:36862276-41597549)	CLEC14A, FBXO33 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527808	GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)	BRMS1L, CLEC14A +20 more	Copy number loss	not specified	GPathogenic
Select item 1458120	NM_001372076.1(PAX9):c.428dup (p.Tyr143Ter)	PAX9 (Y143*)	Duplication (nonsense)	Partial congenital absence of teeth	GPathogenic
Select item 1445235	NC_000014.8:g.(?_36986483)_(37228504_?)dup	NKX2-1, NKX2-8 +2 more	Duplication	not provided	GUncertain significance
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 1360368	NM_001372076.1(PAX9):c.844_845insTTGC (p.Gln282fs)	PAX9 (Q282fs)	Insertion (frameshift variant)	Partial congenital absence of teeth	GUncertain significance
Select item 1351539	NM_001372076.1(PAX9):c.420C>A (p.Tyr140Ter)	PAX9 (Y140*)	Single nucleotide variant (nonsense)	Partial congenital absence of teeth	GPathogenic
Select item 1351209	NM_001372076.1(PAX9):c.482C>A (p.Ser161Ter)	PAX9 (S161*)	Single nucleotide variant (nonsense)	Partial congenital absence of teeth	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 1309239	NM_001372076.1(PAX9):c.25A>G (p.Asn9Asp)	PAX9 (N9D)	Single nucleotide variant (missense variant)	not provided	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 1296023	NM_001372076.1(PAX9):c.5-41A>G	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 1277566	NM_006194.4(PAX9):c.-393-1028A>G	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276366	NM_001372076.1(PAX9):c.771+304A>G	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 1256974	NM_001372076.1(PAX9):c.631+175A>T	PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250848	NM_001372076.1(PAX9):c.632-62G>C	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 1242268	NM_001372076.1(PAX9):c.5-109G>C	PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241041	NM_006194.4(PAX9):c.-393-738T>C	LOC108281111, 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 1169469	NM_001372076.1(PAX9):c.30G>A (p.Gln10=)	PAX9	Single nucleotide variant (synonymous variant)	Partial congenital absence of teeth	GBenign
Select item 1143974	NM_001372076.1(PAX9):c.428A>G (p.Tyr143Cys)	PAX9 (Y143C)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	GLikely benign
Select item 1119978	NM_001372076.1(PAX9):c.152G>T (p.Gly51Val)	PAX9 (G51V)	Single nucleotide variant (missense variant)	Oligodontia	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 1075023	NM_001372076.1(PAX9):c.608del (p.Gly203fs)	PAX9 (G203fs)	Deletion (frameshift variant)	PAX9-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1070666	NM_001372076.1(PAX9):c.451C>T (p.Gln151Ter)	PAX9 (Q151*)	Single nucleotide variant (nonsense)	Partial congenital absence of teeth	GPathogenic
Select item 1064707	NM_001372076.1(PAX9):c.409C>T (p.Gln137Ter)	PAX9 (Q137*)	Single nucleotide variant (nonsense)	Oligodontia	GPathogenic
Select item 1064706	NM_001372076.1(PAX9):c.243del (p.Thr82fs)	PAX9 (T82fs)	Deletion (frameshift variant)	Oligodontia	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 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 1037706	NM_001372076.1(PAX9):c.959C>T (p.Ser320Leu)	PAX9 (S320L)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth	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 1003958	NC_000014.8:g.(?_37145383)_(37145677_?)del	PAX9	Deletion	Partial congenital absence of teeth	GUncertain significance
Select item 980483	GRCh37/hg19 14q13.3(chr14:36969461-37264529)x1	NKX2-1, NKX2-8 +3 more	Copy number loss	not provided	GPathogenic
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 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided

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