"Ambry Genetics"[submitter] AND "RSPH3"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2481612	NM_031924.8(RSPH3):c.1181T>C (p.Met394Thr)	RSPH3 (M394T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2158326	NM_031924.8(RSPH3):c.1141A>G (p.Thr381Ala)	RSPH3 (T381A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 836755	NM_031924.8(RSPH3):c.1039G>T (p.Gly347Cys)	RSPH3 (G393C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2618300	NM_031924.8(RSPH3):c.1016C>T (p.Pro339Leu)	RSPH3 (P339L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1044430	NM_031924.8(RSPH3):c.955C>T (p.Arg319Cys)	RSPH3 (R319C +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GUncertain significance
Select item 2527188	NM_031924.8(RSPH3):c.934A>G (p.Thr312Ala)	RSPH3 (T312A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 969510	NM_031924.8(RSPH3):c.763G>A (p.Ala255Thr)	RSPH3 (A301T +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GUncertain significance
Select item 542470	NM_031924.8(RSPH3):c.701G>A (p.Arg234Gln)	RSPH3 (R280Q +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GUncertain significance
Select item 2316539	NM_031924.8(RSPH3):c.643C>T (p.Arg215Cys)	RSPH3 (R261C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2035741	NM_031924.8(RSPH3):c.636T>G (p.Asn212Lys)	RSPH3 (N212K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566567	NM_031924.8(RSPH3):c.631C>T (p.Arg211Trp)	RSPH3 (R257W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 572370	NM_031924.8(RSPH3):c.571G>A (p.Val191Ile)	RSPH3 (V237I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 542469	NM_031924.8(RSPH3):c.552T>G (p.Ile184Met)	RSPH3 (I230M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 581708	NM_031924.8(RSPH3):c.548C>T (p.Thr183Ile)	RSPH3 (T229I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 657722	NM_031924.8(RSPH3):c.502T>C (p.Phe168Leu)	RSPH3 (F214L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2530305	NM_031924.8(RSPH3):c.334G>A (p.Asp112Asn)	RSPH3 (D112N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 788204	NM_031924.8(RSPH3):c.208G>A (p.Gly70Arg)	RSPH3 (G70R)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32 +2 more	GConflicting classifications of pathogenicity
Select item 542465	NM_031924.8(RSPH3):c.-9C>T	RSPH3 (P140S)	Single nucleotide variant (5 prime UTR variant +2 more)	Primary ciliary dyskinesia 32 +1 more	GUncertain significance
Select item 579646	NM_031924.8(RSPH3):c.-185G>A	RSPH3 (S81N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475829	NM_031924.8(RSPH3):c.-198G>A	RSPH3 (G77R)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32 +1 more	GUncertain significance
Select item 2272541	NM_031924.8(RSPH3):c.-260C>A	RSPH3 (P56Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2603992	NM_031924.8(RSPH3):c.-261C>A	RSPH3 (P56T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2535136	NM_031924.8(RSPH3):c.-401C>A	RSPH3, TAGAP-AS1 (A9D)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 23