"GeneDx"[submitter] AND "PAX9"[gene] - ClinVar

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Items: 31

	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 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 151241	GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1	LOC108281111, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
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 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 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 1309239	NM_001372076.1(PAX9):c.25A>G (p.Asn9Asp)	PAX9 (N9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418946	NM_001372076.1(PAX9):c.114_117dup (p.Cys40fs)	PAX9 (C40fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 13770	NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu)	PAX9 (K91E)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth +1 more	GConflicting classifications of pathogenicity
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 373036	NM_001372076.1(PAX9):c.325_331dup (p.Val111fs)	PAX9 (V111fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1710579	NM_001372076.1(PAX9):c.433C>T (p.Gln145Ter)	PAX9 (Q145*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 817799	NM_001372076.1(PAX9):c.543dup (p.Ile182fs)	PAX9 (I182fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 225820	NM_001372076.1(PAX9):c.631+41G>A	PAX9	Single nucleotide variant (intron variant)	Partial congenital absence of teeth +1 more	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 572978	NM_001372076.1(PAX9):c.689G>T (p.Arg230Leu)	PAX9 (R230L)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth +1 more	GUncertain significance
Select item 313171	NM_001372076.1(PAX9):c.717C>T (p.His239=)	PAX9	Single nucleotide variant (synonymous variant)	Partial congenital absence of teeth +2 more	GBenign
Select item 259937	NM_001372076.1(PAX9):c.718G>C (p.Ala240Pro)	PAX9 (A240P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1276366	NM_001372076.1(PAX9):c.771+304A>G	PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2474881	NM_001372076.1(PAX9):c.775C>T (p.Pro259Ser)	PAX9 (P259S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 313175	NM_001372076.1(PAX9):c.*259C>T	PAX9	Single nucleotide variant (3 prime UTR variant)	Tooth agenesis, selective, 3 +1 more	GBenign

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Items: 31