"Ambry Genetics"[submitter] AND "DLX3"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 324022	NM_005220.3(DLX3):c.698C>T (p.Pro233Leu)	DLX3 (P233L)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +1 more	GUncertain significance
Select item 1464098	NM_005220.3(DLX3):c.682C>T (p.Arg228Cys)	DLX3 (R228C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2096920	NM_005220.3(DLX3):c.662A>T (p.His221Leu)	DLX3 (H221L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1402690	NM_005220.3(DLX3):c.640G>A (p.Ala214Thr)	DLX3 (A214T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2407329	NM_005220.3(DLX3):c.599A>G (p.Asn200Ser)	DLX3 (N200S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341362	NM_005220.3(DLX3):c.534G>C (p.Gln178His)	DLX3 (Q178H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2458548	NM_005220.3(DLX3):c.376C>T (p.Pro126Ser)	DLX3 (P126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265210	NM_005220.3(DLX3):c.190A>G (p.Thr64Ala)	DLX3 (T64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521372	NM_005220.3(DLX3):c.148T>A (p.Tyr50Asn)	DLX3 (Y50N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322083	NM_005220.3(DLX3):c.133G>C (p.Ala45Pro)	DLX3 (A45P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 290750	NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)	DLX3 (D28Y)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +2 more	GConflicting classifications of pathogenicity
Select item 2623443	NM_005220.3(DLX3):c.64T>C (p.Cys22Arg)	DLX3 (C22R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1940527	NM_005220.3(DLX3):c.19C>G (p.Arg7Gly)	DLX3 (R7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance