"Ambry Genetics"[submitter] AND "DNAH8-AS1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2388600	NM_001206927.2(DNAH8):c.9434C>T (p.Pro3145Leu)	DNAH8-AS1, DNAH8 (P3145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488304	NM_001206927.2(DNAH8):c.9469T>G (p.Ser3157Ala)	DNAH8, DNAH8-AS1 (S2940A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224104	NM_001206927.2(DNAH8):c.9701A>C (p.His3234Pro)	DNAH8-AS1, DNAH8 (H3017P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 238658	NM_001206927.2(DNAH8):c.9710T>C (p.Val3237Ala)	DNAH8, DNAH8-AS1 (V3237A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2516848	NM_001206927.2(DNAH8):c.9848G>A (p.Arg3283His)	DNAH8, DNAH8-AS1 (R3066H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340263	NM_001206927.2(DNAH8):c.10321A>T (p.Thr3441Ser)	DNAH8, DNAH8-AS1 (T3441S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 454534	NM_001206927.2(DNAH8):c.10421T>C (p.Phe3474Ser)	DNAH8, DNAH8-AS1 (F3474S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2143783	NM_001206927.2(DNAH8):c.10437A>T (p.Lys3479Asn)	DNAH8, DNAH8-AS1 (K3479N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2552438	NM_001206927.2(DNAH8):c.10477G>T (p.Ala3493Ser)	DNAH8, DNAH8-AS1 (A3276S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 840301	NM_001206927.2(DNAH8):c.10529A>G (p.Asn3510Ser)	DNAH8-AS1, DNAH8 (N3510S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2260603	NM_001206927.2(DNAH8):c.10643C>T (p.Ala3548Val)	DNAH8-AS1, DNAH8 (A3548V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 454537	NM_001206927.2(DNAH8):c.10685C>T (p.Thr3562Met)	DNAH8, DNAH8-AS1 (T3562M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2142713	NM_001206927.2(DNAH8):c.10841C>T (p.Pro3614Leu)	DNAH8, DNAH8-AS1 (P3614L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2266791	NM_001206927.2(DNAH8):c.10847A>G (p.Asn3616Ser)	DNAH8, DNAH8-AS1 (N3399S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211848	NM_001206927.2(DNAH8):c.10850A>G (p.Gln3617Arg)	DNAH8, DNAH8-AS1 (Q3400R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261406	NM_001206927.2(DNAH8):c.11149A>G (p.Thr3717Ala)	DNAH8-AS1, DNAH8 (T3500A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 967990	NM_001206927.2(DNAH8):c.11182C>G (p.Pro3728Ala)	DNAH8-AS1, DNAH8 (P3511A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2283134	NM_001206927.2(DNAH8):c.11244G>T (p.Lys3748Asn)	DNAH8, DNAH8-AS1 (K3531N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 525450	NM_001206927.2(DNAH8):c.11284G>A (p.Gly3762Ser)	DNAH8, DNAH8-AS1 (G3762S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 407271	NM_001206927.2(DNAH8):c.11398G>A (p.Val3800Ile)	DNAH8, DNAH8-AS1 (V3800I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 660774	NM_001206927.2(DNAH8):c.11419A>G (p.Asn3807Asp)	DNAH8, DNAH8-AS1 (N3807D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 569635	NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val)	DNAH8, DNAH8-AS1 (A3823V +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46 +2 more	GUncertain significance
Select item 572515	NM_001206927.2(DNAH8):c.11570T>G (p.Leu3857Trp)	DNAH8, DNAH8-AS1 (L3857W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2270204	NM_001206927.2(DNAH8):c.11717G>A (p.Ser3906Asn)	DNAH8, DNAH8-AS1 (S3689N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338580	NM_001206927.2(DNAH8):c.11726A>G (p.Tyr3909Cys)	DNAH8, DNAH8-AS1 (Y3692C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 525453	NM_001206927.2(DNAH8):c.11729T>C (p.Phe3910Ser)	DNAH8, DNAH8-AS1 (F3910S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2321640	NM_001206927.2(DNAH8):c.11809A>G (p.Met3937Val)	DNAH8-AS1, DNAH8 (M3720V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340804	NM_001206927.2(DNAH8):c.11827T>C (p.Ser3943Pro)	DNAH8-AS1, DNAH8 (S3726P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391224	NM_001206927.2(DNAH8):c.11865G>T (p.Glu3955Asp)	DNAH8, DNAH8-AS1 (E3738D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2479657	NM_001206927.2(DNAH8):c.11888C>T (p.Thr3963Ile)	DNAH8, DNAH8-AS1 (T3963I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 454542	NM_001206927.2(DNAH8):c.11902G>A (p.Gly3968Ser)	DNAH8, DNAH8-AS1 (G3968S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2304196	NM_001206927.2(DNAH8):c.11932G>A (p.Val3978Ile)	DNAH8, DNAH8-AS1 (V3978I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 577981	NM_001206927.2(DNAH8):c.11943G>A (p.Met3981Ile)	DNAH8, DNAH8-AS1 (M3981I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1514291	NM_001206927.2(DNAH8):c.11972C>T (p.Thr3991Ile)	DNAH8, DNAH8-AS1 (T3774I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 525268	NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe)	DNAH8, DNAH8-AS1 (L4034F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1463528	NM_001206927.2(DNAH8):c.12190A>T (p.Ile4064Phe)	DNAH8, DNAH8-AS1 (I3847F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2085183	NM_001206927.2(DNAH8):c.12247A>G (p.Arg4083Gly)	DNAH8, DNAH8-AS1 (R3866G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2310678	NM_001206927.2(DNAH8):c.12433G>A (p.Ala4145Thr)	DNAH8, DNAH8-AS1 (A3928T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 38