Related gene-specific medical variations for Gene (Select 5083) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243943	NC_000014.8:g.(?_37135647)_(37135826_?)del	PAX9	Deletion	Partial congenital absence of teeth	GPathogenic
Select item 3035331	NM_006194.4(PAX9):c.-393-874dup	LOC108281111, PAX9	Duplication (intron variant)	PAX9-related disorder	GLikely benign
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 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 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 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 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 155939	NM_001372076.1(PAX9):c.336C>G (p.Cys112Trp)	PAX9 (C112W)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 3	GPathogenic
Select item 145602	GRCh38/hg38 14q13.3(chr14:36662199-36671907)x3	PAX9	Copy number gain	See cases	GLikely benign
Select item 13780	PAX9, 1-BP INS, 190G	PAX9	Insertion	Tooth agenesis, selective, 3	GPathogenic