C0008780[trait identifier] AND "Yale Center for Mendelian Genomics, Ya - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344738	NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter)	CFAP57 (R588*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1344697	NM_001271049.2(CFAP221):c.2303_2307del (p.Leu768fs)	CFAP221 (L768fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1344698	NM_001271049.2(CFAP221):c.2318+1G>A	CFAP221	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 575428	NM_181426.2(CCDC39):c.1665+1G>A	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 1344602	NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs)	CCDC39 (K495fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 1344600	NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)	CCDC39 (Y452*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 410378	NM_181426.2(CCDC39):c.1167+1261A>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 661055	NM_181426.2(CCDC39):c.1045del (p.Thr349fs)	CCDC39 (T349fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic
Select item 242176	NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)	CCDC39 (T277fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 14 +2 more	GPathogenic/Likely pathogenic
Select item 216140	NM_181426.2(CCDC39):c.610-2A>G	CCDC39	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1344601	NM_181426.2(CCDC39):c.436del (p.Trp146fs)	CCDC39 (W146fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 572671	NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)	CCDC39 (D117G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454746	NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)	DNAH5 (Y4587C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 407248	NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)	DNAH5 (R4496*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 557901	NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)	DNAH5 (W4206*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 953233	NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)	DNAH5 (W4036*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1344588	NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)	DNAH5 (W4003*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 65636	NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	DNAH5 (P3606fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1075777	NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)	DNAH5 (Q3267*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 548647	NM_001369.3(DNAH5):c.9637del (p.Ala3213fs)	DNAH5 (A3213fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 655872	NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)	DNAH5 (R2795*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 525431	NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr)	DNAH5 (I2716T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1344589	NM_001369.3(DNAH5):c.8141del (p.Asn2714fs)	DNAH5 (N2714fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1344591	NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del)	DNAH5	Deletion (inframe_deletion)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 580230	NM_001369.3(DNAH5):c.8010+3A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GPathogenic/Likely pathogenic
Select item 520775	NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)	DNAH5 (R2639*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 179699	NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)	DNAH5 (R2501P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GConflicting classifications of pathogenicity
Select item 548646	NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)	DNAH5 (R2366W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1344585	NM_001369.3(DNAH5):c.6988+2T>C	DNAH5	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 454796	NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)	DNAH5 (D2311fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 220402	NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)	DNAH5 (Q2112fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 228251	NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)	DNAH5 (M2083I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 454789	NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)	DNAH5 (R2013*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 407220	NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)	DNAH5 (R1995*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 454788	NM_001369.3(DNAH5):c.5710-2A>G	DNAH5	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1344590	NM_001369.3(DNAH5):c.5588del (p.Phe1863fs)	DNAH5 (F1863fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 934373	NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro)	DNAH5 (R1716P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	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 1344587	NM_001369.3(DNAH5):c.4117-2A>G	DNAH5	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 454772	NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)	DNAH5 (L1302fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 520776	NM_001369.3(DNAH5):c.3598+2T>C	DNAH5	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 667393	NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)	DNAH5 (V1014fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 454761	NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)	DNAH5	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1344586	NM_001369.3(DNAH5):c.1731-2A>T	DNAH5	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 454748	NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)	DNAH5 (R478*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 163160	NM_001369.3(DNAH5):c.832del (p.Ala278fs)	DNAH5 (A278fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic/Likely pathogenic
Select item 139600	NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)	CCNO, LOC129993895 (Q88fs)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 139599	NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)	CCNO, LOC129993895 (G85fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1344608	NM_152732.5(RSPH9):c.244del (p.Trp82fs)	RSPH9 (W82fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 454692	NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter)	DNAH11 (R2044*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 228333	NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)	DNAH11 (R2082*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1323640	NM_003114.5(SPAG1):c.1119del (p.Ala374fs)	SPAG1 (A374fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 88683	NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)	SPAG1 (Q672*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 5604	NM_012144.4(DNAI1):c.48+2dup	DNAI1	Duplication (splice donor variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1344592	NM_012144.4(DNAI1):c.1463del (p.Pro488fs)	DNAI1 (P488fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 583106	NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)	DNAI1 (A538T +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GPathogenic
Select item 956594	NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp)	DNAAF4, DNAAF4-CCPG1 (R330W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1344596	NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter)	DNAAF1 (Q260* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1344595	NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter)	DNAAF1 (Y25* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1344594	NM_213607.3(CCDC103):c.144-1G>A	CCDC103	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 31698	NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)	DNAAF19 (H154P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 17 +2 more	GPathogenic/Likely pathogenic
Select item 1344606	NM_017950.4(CCDC40):c.93+2T>C	CCDC40	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 31069	NM_017950.4(CCDC40):c.248del (p.Ala83fs)	CCDC40 (A83fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 1344604	NM_017950.4(CCDC40):c.1093G>T (p.Glu365Ter)	CCDC40 (E365*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1344605	NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter)	CCDC40 (Q1120*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1324024	NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)	ODAD1 (R113* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 20 +1 more	GPathogenic/Likely pathogenic
Select item 1344597	NM_001256715.2(DNAAF3):c.174del (p.His59fs)	DNAAF3, DNAAF3-AS1 (H106fs +2 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 208769	NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs)	OFD1 (I890fs +2 more)	Microsatellite (frameshift variant)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 1344687	NM_003611.3(OFD1):c.2862dup (p.Glu955Ter)	OFD1 (E815* +2 more)	Duplication (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1344688	NM_003611.3(OFD1):c.2868del (p.Pro957fs)	OFD1 (P817fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1344607	NM_001034853.2(RPGR):c.1059+1del	RPGR	Deletion (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1344598	NM_173494.2(DNAAF6):c.332+1G>A	DNAAF6	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic

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Items: 72