1747[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 324001	NM_005220.3(DLX3):c.*1326T>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 324002	NM_005220.3(DLX3):c.*1300C>G	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
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 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 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 324005	NM_005220.3(DLX3):c.*1224dup	DLX3	Duplication (3 prime UTR variant)	Amelogenesis Imperfecta, Dominant	GUncertain significance
Select item 324006	NM_005220.3(DLX3):c.*1224del	DLX3	Deletion (3 prime UTR variant)	Amelogenesis Imperfecta, Dominant	GLikely benign
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 324009	NM_005220.3(DLX3):c.1167_1168del	DLX3	Deletion (3 prime UTR variant)	Amelogenesis Imperfecta, Dominant	GUncertain significance
Select item 324008	NM_005220.3(DLX3):c.*1168del	DLX3	Deletion (3 prime UTR variant)	Amelogenesis Imperfecta, Dominant	GLikely benign
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 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 324010	NM_005220.3(DLX3):c.*1016G>C	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 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 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 324013	NM_005220.3(DLX3):c.*928A>G	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
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 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 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 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 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 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 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 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 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 891159	NM_005220.3(DLX3):c.*527G>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 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 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 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 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 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 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 892356	NM_005220.3(DLX3):c.*60G>A	DLX3	Single nucleotide variant (3 prime UTR variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GBenign
Select item 2824500	NM_005220.3(DLX3):c.858G>A (p.Val286=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 283591	NM_005220.3(DLX3):c.853G>A (p.Ala285Thr)	DLX3 (A285T)	Single nucleotide variant (missense variant)	not provided	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 3022544	NM_005220.3(DLX3):c.840G>A (p.Pro280=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196407	NM_005220.3(DLX3):c.832G>A (p.Gly278Arg)	DLX3 (G278R)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 1607552	NM_005220.3(DLX3):c.831C>T (p.Pro277=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2967185	NM_005220.3(DLX3):c.823G>A (p.Ala275Thr)	DLX3 (A275T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598023	NM_005220.3(DLX3):c.813C>A (p.Thr271=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2176787	NM_005220.3(DLX3):c.771G>C (p.Leu257=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2899944	NM_005220.3(DLX3):c.739C>T (p.Pro247Ser)	DLX3 (P247S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 892358	NM_005220.3(DLX3):c.736G>C (p.Asp246His)	DLX3 (D246H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1609444	NM_005220.3(DLX3):c.735C>T (p.Asp245=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896706	NM_005220.3(DLX3):c.730C>G (p.Leu244Val)	DLX3 (L244V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092519	NM_005220.3(DLX3):c.728A>G (p.Tyr243Cys)	DLX3 (Y243C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716610	NM_005220.3(DLX3):c.719C>G (p.Ser240Cys)	DLX3 (S240C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289857	NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)	DLX3 (Y237C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1452015	NM_005220.3(DLX3):c.702G>A (p.Pro234=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962095	NM_005220.3(DLX3):c.701C>T (p.Pro234Leu)	DLX3 (P234L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944429	NM_005220.3(DLX3):c.699G>C (p.Pro233=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590800	NM_005220.3(DLX3):c.699G>A (p.Pro233=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1935364	NM_005220.3(DLX3):c.690G>A (p.Gln230=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1381238	NM_005220.3(DLX3):c.683G>A (p.Arg228His)	DLX3 (R228H)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2416889	NM_005220.3(DLX3):c.672G>A (p.Pro224=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358123	NM_005220.3(DLX3):c.671C>T (p.Pro224Leu)	DLX3 (P224L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188655	NM_005220.3(DLX3):c.663C>T (p.His221=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1938353	NM_005220.3(DLX3):c.648G>T (p.Trp216Cys)	DLX3 (W216C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696511	NM_005220.3(DLX3):c.646T>A (p.Trp216Arg)	DLX3 (W216R)	Single nucleotide variant (missense variant)	not provided	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 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 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 1637368	NM_005220.3(DLX3):c.594T>C (p.Ser198=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945266	NM_005220.3(DLX3):c.588G>A (p.Glu196=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606603	NM_005220.3(DLX3):c.582G>T (p.Pro194=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 324023	NM_005220.3(DLX3):c.582G>A (p.Pro194=)	DLX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 9072	NM_005220.3(DLX3):c.571_574del (p.Gly191fs)	DLX3 (G191fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2098946	NM_005220.3(DLX3):c.573G>A (p.Gly191=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629039	NM_005220.3(DLX3):c.570C>T (p.Asn190=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993170	NM_005220.3(DLX3):c.563A>G (p.Tyr188Cys)	DLX3 (Y188C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9073	NM_005220.3(DLX3):c.561_562del (p.Tyr188fs)	DLX3 (Y188fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 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 2850795	NM_005220.3(DLX3):c.525C>G (p.Ile175Met)	DLX3 (I175M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019650	NM_005220.3(DLX3):c.525C>T (p.Ile175=)	DLX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906026	NM_005220.3(DLX3):c.517-18C>T	DLX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660410	NM_005220.3(DLX3):c.517-19C>G	DLX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646384	NM_005220.3(DLX3):c.517-19C>A	DLX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287927	NM_005220.3(DLX3):c.517-60C>G	DLX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290503	NM_005220.3(DLX3):c.516+121T>C	DLX3	Single nucleotide variant (intron variant)	not provided	GBenign

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