Related gene-specific medical variations for Gene (Select 10265) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053246	NM_005853.6(IRX5):c.549C>T (p.Asn183=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	IRX5-related disorder	GLikely benign
Select item 2617997	NM_005853.6(IRX5):c.265C>A (p.His89Asn)	IRX5, LOC126862355 (H89N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475494	NM_005853.6(IRX5):c.388G>A (p.Ala130Thr)	IRX5, LOC126862355 (A130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472174	NM_005853.6(IRX5):c.257C>T (p.Pro86Leu)	IRX5, LOC126862355 (P86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265425	NM_005853.6(IRX5):c.399C>G (p.Asn133Lys)	IRX5, LOC126862355 (N133K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227721	NM_005853.6(IRX5):c.520G>C (p.Glu174Gln)	IRX5, LOC126862355 (E174Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2096588	NM_005853.6(IRX5):c.420C>T (p.Tyr140=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029262	NM_005853.6(IRX5):c.261C>T (p.Tyr87=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695336	NM_005853.6(IRX5):c.503G>A (p.Arg168His)	IRX5, LOC126862355 (R168H)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic
Select item 1181544	NM_005853.6(IRX5):c.249+182C>G	IRX5, LOC126862355	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 800011	NM_005853.6(IRX5):c.438G>A (p.Lys146=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750349	NM_005853.6(IRX5):c.381C>T (p.Thr127=)	LOC126862355, IRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747560	NM_005853.6(IRX5):c.357C>T (p.Asn119=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745999	NM_005853.6(IRX5):c.270A>T (p.Thr90=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728801	NM_005853.6(IRX5):c.501G>A (p.Ala167=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723491	NM_005853.6(IRX5):c.567A>G (p.Glu189=)	IRX5, LOC126862355	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 31911	NM_005853.6(IRX5):c.448G>C (p.Ala150Pro)	IRX5, LOC126862355 (A150P)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic
Select item 31910	NM_005853.6(IRX5):c.498C>A (p.Asn166Lys)	IRX5, LOC126862355 (N166K)	Single nucleotide variant (missense variant)	Craniofacial dysplasia - osteopenia syndrome	GPathogenic