"Baylor Genetics"[submitter] AND "DNAH1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 771257	NM_015512.5(DNAH1):c.1263G>T (p.Thr421=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1032695	NM_015512.5(DNAH1):c.2339G>A (p.Arg780Gln)	DNAH1 (R780Q)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +2 more	GUncertain significance
Select item 649146	NM_015512.5(DNAH1):c.3260G>A (p.Arg1087His)	DNAH1 (R1087H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1030508	NM_015512.5(DNAH1):c.3815G>A (p.Arg1272Gln)	DNAH1 (R1272Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 1033362	NM_015512.5(DNAH1):c.6374C>T (p.Thr2125Ile)	DNAH1 (T2125I)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37	GUncertain significance
Select item 1033363	NM_015512.5(DNAH1):c.6442G>A (p.Gly2148Arg)	DNAH1 (G2148R)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37	GUncertain significance
Select item 1033365	NM_015512.5(DNAH1):c.9352C>T (p.Arg3118Ter)	DNAH1 (R3118*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 37	GPathogenic
Select item 569725	NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys)	DNAH1 (R3272C)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 954712	NM_015512.5(DNAH1):c.9854A>G (p.Glu3285Gly)	DNAH1 (E3285G)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +2 more	GUncertain significance
Select item 478379	NM_015512.5(DNAH1):c.10071A>G (p.Leu3357=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +2 more	GConflicting classifications of pathogenicity
Select item 662165	NM_015512.5(DNAH1):c.11063A>G (p.Tyr3688Cys)	DNAH1 (Y3688C)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +2 more	GUncertain significance
Select item 1029553	NM_015512.5(DNAH1):c.11153G>A (p.Arg3718His)	DNAH1 (R3718H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032694	NM_015512.5(DNAH1):c.11338A>G (p.Lys3780Glu)	DNAH1 (K3780E)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic