"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DNAH8"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 238655	NM_001206927.2(DNAH8):c.725G>A (p.Arg242His)	DNAH8 (R242H +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46 +2 more	GConflicting classifications of pathogenicity
Select item 407282	NM_001206927.2(DNAH8):c.2980A>T (p.Ile994Leu)	DNAH8 (I994L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 655853	NM_001206927.2(DNAH8):c.3377G>A (p.Arg1126His)	DNAH8 (R909H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1579898	NM_001206927.2(DNAH8):c.4303-15T>C	DNAH8	Single nucleotide variant (intron variant)	Spermatogenic failure 46 +1 more	GLikely benign
Select item 525228	NM_001206927.2(DNAH8):c.4847A>T (p.Asp1616Val)	DNAH8 (D1616V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 238649	NM_001206927.2(DNAH8):c.4908G>T (p.Glu1636Asp)	DNAH8 (E1636D +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46 +1 more	GBenign/Likely benign
Select item 407295	NM_001206927.2(DNAH8):c.5545A>T (p.Ile1849Leu)	DNAH8 (I1849L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1449993	NM_001206927.2(DNAH8):c.6434A>G (p.Gln2145Arg)	DNAH8 (Q1928R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 407284	NM_001206927.2(DNAH8):c.7123A>C (p.Asn2375His)	DNAH8 (N2375H +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46 +3 more	GUncertain significance
Select item 525564	NM_001206927.2(DNAH8):c.7471A>G (p.Ile2491Val)	DNAH8 (I2491V +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46 +2 more	GLikely benign
Select item 407296	NM_001206927.2(DNAH8):c.7774C>T (p.Arg2592Trp)	DNAH8 (R2592W +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46 +1 more	GUncertain significance
Select item 224919	NM_001206927.2(DNAH8):c.8339T>C (p.Ile2780Thr)	DNAH8 (I2780T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46 +2 more	GBenign/Likely benign
Select item 414387	NM_001206927.2(DNAH8):c.8747+4C>T	DNAH8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GLikely benign
Select item 525363	NM_001206927.2(DNAH8):c.9025C>A (p.Leu3009Met)	DNAH8 (L3009M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 849895	NM_001206927.2(DNAH8):c.11345A>C (p.Asn3782Thr)	DNAH8, DNAH8-AS1 (N3565T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46 +2 more	GUncertain significance
Select item 1085710	NM_001206927.2(DNAH8):c.11701G>A (p.Ala3901Thr)	DNAH8, DNAH8-AS1 (A3684T +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 46 +1 more	GLikely benign
Select item 414392	NM_001206927.2(DNAH8):c.11776T>C (p.Leu3926=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 525268	NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe)	DNAH8-AS1, DNAH8 (L4034F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 583335	NM_001206927.2(DNAH8):c.13417A>C (p.Ile4473Leu)	DNAH8 (I4473L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GUncertain significance
Select item 414429	NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)	DNAH8 (T4608M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 238638	NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter)	DNAH8 (R4687* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 46 +2 more	GUncertain significance

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Items: 21