NBK1122 AND genereviews[submitter] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66021	NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)	ZMYND10 (V16G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22 +2 more	GPathogenic
Select item 209005	NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)	DNAH1 (K1154Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GLikely pathogenic
Select item 65994	NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs)	CCDC39, TTC14 (S786fs)	Indel (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 65950	NM_181426.2(CCDC39):c.2190del (p.Glu731fs)	CCDC39 (E731fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 65998	NM_181426.2(CCDC39):c.1072del (p.Thr358fs)	CCDC39 (T358fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 31067	NM_181426.2(CCDC39):c.357+1G>C	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 14 +3 more	GPathogenic
Select item 65636	NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	DNAH5 (P3606fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 208992	NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)	DNAH5 (Q1450*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 65637	NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)	DNAH5 (R577T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 208994	NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)	LOC129997052, RSPH4A (R56fs)	Duplication (frameshift variant)	Kartagener syndrome	Gnot provided
Select item 504	NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)	RSPH4A (Q109*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 503	NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)	RSPH4A (Q154*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 88863	NM_001010892.3(RSPH4A):c.921+3_921+6del	RSPH4A	Deletion (splice donor variant)	not provided +3 more	GPathogenic
Select item 505	NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)	RSPH4A (R490*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 39684	NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro)	DNAAF5 (L795P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6474	NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)	DNAH11 (R2845*)	Single nucleotide variant (nonsense)	CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS	GPathogenic
Select item 3257	NM_016616.4(NME8):c.271-27C>T	NME8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 6 +2 more	GBenign/Likely benign
Select item 3256	NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)	NME8 (L426*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 88681	NC_000008.11:g.100151617_100163589del	LOC130000829, LOC130000830 +2 more	Deletion	Primary ciliary dyskinesia 28 +1 more	GPathogenic
Select item 209000	NM_003114.5(SPAG1):c.902_906del (p.Lys301fs)	SPAG1 (K301fs)	Deletion (frameshift variant)	Kartagener syndrome	Gnot provided
Select item 88683	NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)	SPAG1 (Q672*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 28 +2 more	GPathogenic/Likely pathogenic
Select item 208996	NM_012472.6(DNAAF11):c.630del (p.Trp210fs)	DNAAF11 (W128fs +2 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GPathogenic
Select item 39794	NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs)	DNAAF11 (K80fs +2 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 39796	NM_012472.6(DNAAF11):c.576dup (p.Glu193fs)	DNAAF11 (E111fs +2 more)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 39795	NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter)	DNAAF11 (Q192* +2 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 39798	NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)	DNAAF11 (D146H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GPathogenic
Select item 39797	NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro)	DNAAF11 (A74P)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 5604	NM_012144.4(DNAI1):c.48+2dup	DNAI1	Duplication (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 65704	NM_012144.4(DNAI1):c.2001+1G>A	DNAI1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 66045	NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)	ODAD2 (L927W +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 23	GPathogenic/Likely pathogenic
Select item 208847	NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs)	DNAAF2, LOC130055542 (G406fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia 10	GPathogenic
Select item 208993	NM_018139.3(DNAAF2):c.31del (p.Glu11fs)	DNAAF2 (E11fs)	Deletion (frameshift variant)	Kartagener syndrome	Gnot provided
Select item 529	NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter)	DNAAF2 (S8*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 10	GPathogenic
Select item 30816	NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)	DNAL1 (N150S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 16	GPathogenic
Select item 65498	NM_178452.6(DNAAF1):c.124+1536_353-2102del	DNAAF1	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 13	GPathogenic
Select item 267	NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)	DNAAF1 (L175R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GPathogenic
Select item 264	NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)	DNAAF1 (R271* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 263	NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)	DNAAF1 (P215fs +1 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 4955	NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter)	DNAI2 (R263*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 31069	NM_017950.4(CCDC40):c.248del (p.Ala83fs)	CCDC40 (A83fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 65930	NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp)	CCDC40	Insertion (inframe_indel)	Primary ciliary dyskinesia 15	GPathogenic
Select item 156366	NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter)	ODAD3 (S419* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 30	GPathogenic
Select item 156365	NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter)	ODAD3 (E309* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2085	NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	GCDH (R402W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 29 +4 more	GPathogenic/Likely pathogenic
Select item 39637	NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)	ODAD1 (A248T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 20 +2 more	GPathogenic
Select item 66989	NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)	RSPH1 (K136fs +1 more)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 24	GLikely pathogenic
Select item 66990	NM_080860.4(RSPH1):c.275-2A>C	RSPH1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 24 +3 more	GPathogenic
Select item 66987	NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)	LOC126653391, RSPH1 (E29*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 24 +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48