C0266642[trait identifier] AND "Pediatric Genetics Clinic, Sheba Medic - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065359	NM_001370.2(DNAH6):c.6181C>T (p.Arg2061Ter)	DNAH6 (R2061*)	Single nucleotide variant (nonsense)	Heterotaxy	GUncertain significance
Select item 565319	NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)	CCDC39 (I624fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 407242	NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter)	DNAH5 (R3909*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 238987	NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter)	DNAH5 (R2677*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1065357	NM_138295.5(PKD1L1):c.5404_5405dup (p.Asp1803fs)	PKD1L1 (D1803fs)	Duplication (frameshift variant)	Heterotaxy	GLikely pathogenic
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 +2 more	GPathogenic
Select item 1065360	NM_001200049.3(CFAP46):c.1951C>T (p.Arg651Trp)	CFAP46 (R651W)	Single nucleotide variant (missense variant)	Heterotaxy	GUncertain significance
Select item 1065351	NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs)	CFAP300 (Y208fs +1 more)	Insertion (frameshift variant)	Heterotaxy	GPathogenic
Select item 242159	NM_178452.6(DNAAF1):c.1698+1G>A	DNAAF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1065353	NM_031421.5(ODAD4):c.1979del (p.Thr660fs)	ODAD4 (T660fs)	Deletion (3 prime UTR variant +2 more)	Heterotaxy	GPathogenic
Select item 1065352	NM_017950.4(CCDC40):c.2832+489_2832+491dup	CCDC40	Duplication (inframe_insertion +1 more)	Heterotaxy	GPathogenic
Select item 1065350	NM_145020.5(CFAP53):c.778-2A>T	CFAP53	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1065355	NM_145020.5(CFAP53):c.777G>T (p.Val259=)	CFAP53	Single nucleotide variant (synonymous variant)	Heterotaxy	GLikely pathogenic
Select item 1065356	NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs)	DAND5 (Y133fs)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985628	NM_001492.6(GDF1):c.608G>A (p.Trp203Ter)	CERS1, GDF1 (W203*)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1065354	NM_021254.4(CFAP298):c.308C>A (p.Ala103Asp)	CFAP298, CFAP298-TCP10L (A103D)	Single nucleotide variant (missense variant +2 more)	Heterotaxy	GPathogenic
Select item 1065358	NM_001378328.1(CELSR1):c.5497G>A (p.Val1833Met)	CELSR1 (V1833M)	Single nucleotide variant (missense variant)	Heterotaxy	GUncertain significance