ClinVar for MedGen (Select 815873) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255381	NM_015896.4(ZMYND10):c.967del (p.Gln323fs)	ZMYND10 (Q318fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 22	GLikely pathogenic
Select item 3064060	NM_015896.4(ZMYND10):c.292C>A (p.Gln98Lys)	ZMYND10 (Q98K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22	Gnot provided
Select item 2626965	NM_015896.4(ZMYND10):c.1248-1G>T	ZMYND10	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 22	GLikely pathogenic
Select item 2431468	NM_015896.4(ZMYND10):c.510+1del	ZMYND10	Deletion (splice donor variant)	Primary ciliary dyskinesia 22	GLikely pathogenic
Select item 2040520	NM_015896.4(ZMYND10):c.183_187del (p.Leu62fs)	ZMYND10 (L62fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1806284	NM_015896.4(ZMYND10):c.373-1G>A	ZMYND10	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 22	GUncertain significance
Select item 1705506	NM_015896.4(ZMYND10):c.490C>T (p.Gln164Ter)	ZMYND10 (Q164*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1438577	NM_015896.4(ZMYND10):c.778G>A (p.Gly260Arg)	ZMYND10 (G255R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1332867	NM_015896.4(ZMYND10):c.747del (p.Ser250fs)	ZMYND10 (S245fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 22	GPathogenic
Select item 646011	NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys)	ZMYND10 (E79K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22 +1 more	GUncertain significance
Select item 574473	NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp)	ZMYND10 (R391W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 454842	NM_015896.4(ZMYND10):c.637C>T (p.His213Tyr)	ZMYND10 (H213Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 410633	NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr)	ZMYND10 (A77T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22 +1 more	GConflicting classifications of pathogenicity
Select item 241066	NM_015896.4(ZMYND10):c.1073A>G (p.Gln358Arg)	ZMYND10 (Q358R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22 +2 more	GBenign/Likely benign
Select item 241065	NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln)	ZMYND10 (R340Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 66026	NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)	ZMYND10 (L266P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GPathogenic
Select item 66025	NM_015896.4(ZMYND10):c.593_594del (p.Val198fs)	ZMYND10 (V198fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 22	GPathogenic
Select item 66024	NM_015896.4(ZMYND10):c.967C>T (p.Gln323Ter)	ZMYND10 (Q323* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 22	GPathogenic
Select item 66023	NM_015896.4(ZMYND10):c.486dup (p.Ser163fs)	ZMYND10 (S163fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 22	GPathogenic
Select item 66022	NM_015896.4(ZMYND10):c.300del (p.Phe101fs)	ZMYND10 (F101fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 66021	NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)	ZMYND10 (V16G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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Items: 21