ClinVar for MedGen (Select 390990) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 112

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690934	NM_023036.6(DNAI2):c.1199T>A (p.Ile400Asn)	DNAI2 (I400N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 2577156	NM_023036.6(DNAI2):c.987+1G>A	DNAI2	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 9	GLikely pathogenic
Select item 2501698	NM_023036.6(DNAI2):c.87dup (p.Asp30fs)	DNAI2 (D30fs)	Duplication (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 9	GLikely pathogenic
Select item 2439890	NM_023036.6(DNAI2):c.1631_1632insAGCG (p.Val545fs)	DNAI2 (V533fs +1 more)	Insertion (frameshift variant)	Primary ciliary dyskinesia 9	GLikely pathogenic
Select item 2139109	NM_023036.6(DNAI2):c.1103A>G (p.Tyr368Cys)	DNAI2 (Y368C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 1687254	NM_023036.6(DNAI2):c.341_344del (p.Gly114fs)	DNAI2 (G114fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 9	GLikely pathogenic
Select item 1496671	NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly)	DNAI2 (R263G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1407109	NM_023036.6(DNAI2):c.1407C>A (p.Cys469Ter)	DNAI2 (C457* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1199339	NM_023036.6(DNAI2):c.1040G>C (p.Arg347Pro)	DNAI2 (R347P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 1184655	NM_023036.6(DNAI2):c.1722+78G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GBenign
Select item 1184654	NM_023036.6(DNAI2):c.865-81C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GBenign
Select item 1184653	NM_023036.6(DNAI2):c.724+158G>A	DNAI2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184652	NM_023036.6(DNAI2):c.467+77G>T	DNAI2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184651	NM_023036.6(DNAI2):c.-11-67A>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GBenign
Select item 977559	NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu)	DNAI2 (P377L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 891774	NM_023036.6(DNAI2):c.*339C>T	DNAI2	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 891773	NM_023036.6(DNAI2):c.*299A>G	DNAI2	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 891772	NM_023036.6(DNAI2):c.*138C>A	DNAI2	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 891531	NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met)	DNAI2 (T559M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 891450	NM_023036.6(DNAI2):c.982A>G (p.Thr328Ala)	DNAI2 (T328A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 891391	NM_023036.6(DNAI2):c.110T>C (p.Leu37Pro)	DNAI2 (L37P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 891390	NM_023036.6(DNAI2):c.-22G>A	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 889280	NM_023036.6(DNAI2):c.1455C>G (p.Leu485=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 889279	NM_023036.6(DNAI2):c.1348-15C>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 889226	NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln)	DNAI2 (R189Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +2 more	GUncertain significance
Select item 889225	NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser)	DNAI2 (A179S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 889224	NM_023036.6(DNAI2):c.531G>T (p.Lys177Asn)	DNAI2 (K177N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 889223	NM_023036.6(DNAI2):c.467+3A>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 855463	NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr)	DNAI2 (A369T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 804422	NM_023036.6(DNAI2):c.674del (p.Asn225fs)	DNAI2 (N225fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 9	GLikely pathogenic
Select item 764259	NM_023036.6(DNAI2):c.39G>A (p.Glu13=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 703212	NM_023036.6(DNAI2):c.1194G>A (p.Ser398=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 702025	NM_023036.6(DNAI2):c.1683G>A (p.Lys561=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 698075	NM_023036.6(DNAI2):c.123C>T (p.Phe41=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 697567	NM_023036.6(DNAI2):c.1776G>A (p.Ala592=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 696238	NM_023036.6(DNAI2):c.1287C>T (p.Asp429=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GLikely benign
Select item 662259	NM_023036.6(DNAI2):c.1040G>A (p.Arg347His)	DNAI2 (R347H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 654627	NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln)	DNAI2 (P377Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 631785	NM_023036.6(DNAI2):c.725-2A>C	DNAI2	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 571617	NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp)	DNAI2 (E326D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 571240	NM_023036.6(DNAI2):c.284G>A (p.Arg95His)	DNAI2 (R95H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 567344	NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn)	DNAI2 (D385N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 551962	NM_023036.6(DNAI2):c.1723-1G>T	DNAI2	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 9 +2 more	GConflicting classifications of pathogenicity
Select item 525570	NM_023036.6(DNAI2):c.1629G>A (p.Ala543=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 525517	NM_023036.6(DNAI2):c.598A>C (p.Ile200Leu)	DNAI2 (I200L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 525359	NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter)	DNAI2 (Q240*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 9 +1 more	GPathogenic/Likely pathogenic
Select item 454938	NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn)	DNAI2 (D197N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 454935	NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val)	DNAI2 (I555V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 454933	NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter)	DNAI2 (Q472* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 9 +1 more	GPathogenic/Likely pathogenic
Select item 445505	NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn)	DNAI2 (D443N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +2 more	GUncertain significance
Select item 415318	NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe)	DNAI2 (L488F +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 415315	NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)	DNAI2 (R66L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +2 more	GConflicting classifications of pathogenicity
Select item 408965	NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)	DNAI2 (Y106F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 408964	NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys)	DNAI2 (E39K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 325027	NM_023036.6(DNAI2):c.*272C>G	DNAI2	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 325026	NM_023036.6(DNAI2):c.55+6G>A	DNAI2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 325025	NM_023036.6(DNAI2):c.*19G>A	DNAI2	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 325023	NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn)	DNAI2 (D554N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 9 +1 more	GBenign/Likely benign
Select item 325022	NM_023036.6(DNAI2):c.1602T>C (p.Asp534=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 325021	NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp)	DNAI2 (R518W +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 325020	NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp)	DNAI2 (E511D +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +2 more	GUncertain significance
Select item 325019	NM_023036.6(DNAI2):c.1489T>A (p.Ser497Thr)	DNAI2 (S497T +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 325018	NM_023036.6(DNAI2):c.1248C>T (p.Ser416=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 325017	NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys)	DNAI2 (R389C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +2 more	GUncertain significance
Select item 325016	NM_023036.6(DNAI2):c.1000A>G (p.Met334Val)	DNAI2 (M334V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 325015	NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr)	DNAI2 (A317T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 325014	NM_023036.6(DNAI2):c.864+4C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 325013	NM_023036.6(DNAI2):c.828G>A (p.Thr276=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 325012	NM_023036.6(DNAI2):c.611-3T>C	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 325011	NM_023036.6(DNAI2):c.610+12C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 325010	NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp)	DNAI2 (R189W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 325009	NM_023036.6(DNAI2):c.468-4G>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +3 more	GConflicting classifications of pathogenicity
Select item 325008	NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr)	DNAI2 (A109T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 325007	NM_023036.6(DNAI2):c.318C>T (p.Tyr106=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 325006	NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)	DNAI2 (N45S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +2 more	GConflicting classifications of pathogenicity
Select item 325005	NM_023036.6(DNAI2):c.-4C>T	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 325004	NM_023036.6(DNAI2):c.-17C>A	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 325003	NM_023036.6(DNAI2):c.-21C>T	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 325001	NM_023036.6(DNAI2):c.-54A>G	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GBenign
Select item 261658	NM_023036.6(DNAI2):c.933G>A (p.Lys311=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 261656	NM_023036.6(DNAI2):c.754G>A (p.Val252Met)	DNAI2 (V252M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 261655	NM_023036.6(DNAI2):c.747C>T (p.Gly249=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 261653	NM_023036.6(DNAI2):c.610+31G>A	DNAI2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 261648	NM_023036.6(DNAI2):c.345+27A>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +2 more	GBenign
Select item 261646	NM_023036.6(DNAI2):c.1722+41C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +2 more	GBenign
Select item 261645	NM_023036.6(DNAI2):c.1722+34G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +2 more	GBenign
Select item 261644	NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)	DNAI2 (P572L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 261643	NM_023036.6(DNAI2):c.1572G>A (p.Lys524=)	DNAI2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 261641	NM_023036.6(DNAI2):c.1380G>T (p.Val460=)	DNAI2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 261639	NM_023036.6(DNAI2):c.1131G>A (p.Pro377=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 261638	NM_023036.6(DNAI2):c.1053G>A (p.Thr351=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 241453	NM_023036.6(DNAI2):c.759G>A (p.Ala253=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 241452	NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)	DNAI2	Single nucleotide variant (synonymous variant)	DNAI2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 241451	NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn)	DNAI2 (D534N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 9 +1 more	GUncertain significance
Select item 241450	NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)	DNAI2 (A525V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 241449	NM_023036.6(DNAI2):c.1431C>G (p.Thr477=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 241446	NM_023036.6(DNAI2):c.124G>A (p.Val42Met)	DNAI2 (V42M)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 228613	NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)	DNAI2 (P191S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 228335	NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)	DNAI2 (W435*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 226612	NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)	DNAI2 (D197V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign

<< First< Prev

Page of 2