ClinVar for MedGen (Select 350816) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445428	NM_005220.3(DLX3):c.537C>A (p.Asn179Lys)	DLX3 (N179K)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GLikely pathogenic
Select item 2445426	NM_005220.3(DLX3):c.92C>G (p.Thr31Ser)	DLX3 (T31S)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 1221806	NM_005220.3(DLX3):c.516+23C>T	DLX3	Single nucleotide variant (intron variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +2 more	GBenign
Select item 892358	NM_005220.3(DLX3):c.736G>C (p.Asp246His)	DLX3 (D246H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 892357	NM_005220.3(DLX3):c.746A>C (p.Asn249Thr)	DLX3 (N249T)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 892356	NM_005220.3(DLX3):c.*60G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +1 more	GBenign
Select item 892355	NM_005220.3(DLX3):c.*75G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 892305	NM_005220.3(DLX3):c.*1164A>G	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 892304	NM_005220.3(DLX3):c.*1296G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 891161	NM_005220.3(DLX3):c.*429C>G	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 891160	NM_005220.3(DLX3):c.*437G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 891159	NM_005220.3(DLX3):c.*527G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 891093	NM_005220.3(DLX3):c.*1335C>T	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 891092	NM_005220.3(DLX3):c.*1408G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 891091	NM_005220.3(DLX3):c.*1410G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 890607	NM_005220.3(DLX3):c.*548C>T	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 890606	NM_005220.3(DLX3):c.*679C>T	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 890605	NM_005220.3(DLX3):c.*707C>T	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 890604	NM_005220.3(DLX3):c.*723T>G	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 890603	NM_005220.3(DLX3):c.*726T>C	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 890602	NM_005220.3(DLX3):c.*812G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 889647	NM_005220.3(DLX3):c.-121C>T	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 889646	NM_005220.3(DLX3):c.-62C>A	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 888964	NM_005220.3(DLX3):c.326-15G>T	DLX3	Single nucleotide variant (intron variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 888963	NM_005220.3(DLX3):c.636A>G (p.Ser212=)	DLX3	Single nucleotide variant (synonymous variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GLikely benign
Select item 888909	NM_005220.3(DLX3):c.*868C>T	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 888908	NM_005220.3(DLX3):c.*986C>T	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 888907	NM_005220.3(DLX3):c.*1025G>T	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 430609	NM_005220.3(DLX3):c.476G>T (p.Arg159Leu)	DLX3 (R159L)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +1 more	GPathogenic
Select item 430607	NM_005220.3(DLX3):c.574del (p.Glu192fs)	DLX3 (E192fs)	Deletion (frameshift variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +1 more	GLikely pathogenic
Select item 373912	NM_005220.3(DLX3):c.574dup (p.Glu192fs)	DLX3 (E192fs)	Duplication (frameshift variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GLikely pathogenic
Select item 324036	NM_005220.3(DLX3):c.-225G>A	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324035	NM_005220.3(DLX3):c.-190C>T	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324034	NM_005220.3(DLX3):c.-189G>T	DLX3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 324033	NM_005220.3(DLX3):c.-135C>T	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324032	NM_005220.3(DLX3):c.-134C>A	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +1 more	GBenign
Select item 324031	NM_005220.3(DLX3):c.-132C>A	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324030	NM_005220.3(DLX3):c.-131C>A	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324029	NM_005220.3(DLX3):c.-131C>G	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324028	NM_005220.3(DLX3):c.-64C>T	DLX3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 324027	NM_005220.3(DLX3):c.-37C>G	DLX3	Single nucleotide variant (5 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GLikely benign
Select item 324026	NM_005220.3(DLX3):c.140A>G (p.Gln47Arg)	DLX3 (Q47R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 324024	NM_005220.3(DLX3):c.465G>A (p.Ala155=)	DLX3	Single nucleotide variant (synonymous variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GLikely benign
Select item 324023	NM_005220.3(DLX3):c.582G>A (p.Pro194=)	DLX3	Single nucleotide variant (synonymous variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +2 more	GBenign
Select item 324022	NM_005220.3(DLX3):c.698C>T (p.Pro233Leu)	DLX3 (P233L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 324021	NM_005220.3(DLX3):c.798G>A (p.Pro266=)	DLX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324020	NM_005220.3(DLX3):c.846C>A (p.Asn282Lys)	DLX3 (N282K)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324019	NM_005220.3(DLX3):c.*83G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324018	NM_005220.3(DLX3):c.*124C>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324017	NM_005220.3(DLX3):c.*259C>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 324016	NM_005220.3(DLX3):c.*494A>G	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 324015	NM_005220.3(DLX3):c.*714C>T	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324014	NM_005220.3(DLX3):c.*821C>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324013	NM_005220.3(DLX3):c.*928A>G	DLX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324012	NM_005220.3(DLX3):c.*987C>T	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 324011	NM_005220.3(DLX3):c.*988G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324010	NM_005220.3(DLX3):c.*1016G>C	DLX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324007	NM_005220.3(DLX3):c.*1205A>C	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324004	NM_005220.3(DLX3):c.*1252C>G	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324003	NM_005220.3(DLX3):c.*1272T>C	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 324002	NM_005220.3(DLX3):c.*1300C>G	DLX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324001	NM_005220.3(DLX3):c.*1326T>A	DLX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324000	NM_005220.3(DLX3):c.*1328T>G	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GLikely benign
Select item 323999	NM_005220.3(DLX3):c.*1505G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GUncertain significance
Select item 290750	NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)	DLX3 (D28Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289857	NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)	DLX3 (Y237C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259676	NM_005220.3(DLX3):c.402G>A (p.Thr134=)	DLX3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259675	NM_005220.3(DLX3):c.138C>T (p.Pro46=)	DLX3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 196407	NM_005220.3(DLX3):c.832G>A (p.Gly278Arg)	DLX3 (G278R)	Single nucleotide variant (missense variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +2 more	GLikely benign
Select item 193301	NM_005220.3(DLX3):c.90T>C (p.Pro30=)	DLX3	Single nucleotide variant (synonymous variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism +2 more	GConflicting classifications of pathogenicity
Select item 9073	NM_005220.3(DLX3):c.561_562del (p.Tyr188fs)	DLX3 (Y188fs)	Microsatellite (frameshift variant)	not provided	GPathogenic

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Items: 71