"Ambry Genetics"[submitter] AND "PRPF3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 839137	NM_004698.4(PRPF3):c.128A>G (p.Asp43Gly)	PRPF3 (D43G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 839654	NM_004698.4(PRPF3):c.247A>G (p.Ser83Gly)	PRPF3 (S83G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1002166	NM_004698.4(PRPF3):c.266G>A (p.Arg89Gln)	PRPF3 (R89Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2320881	NM_004698.4(PRPF3):c.787C>T (p.Arg263Cys)	PRPF3 (R128C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3219146	NM_004698.4(PRPF3):c.793G>A (p.Val265Ile)	PRPF3 (V265I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225376	NM_004698.4(PRPF3):c.928T>A (p.Phe310Ile)	PRPF3 (F310I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 834863	NM_004698.4(PRPF3):c.1204A>G (p.Thr402Ala)	PRPF3 (T402A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2246307	NM_004698.4(PRPF3):c.1289A>G (p.Asn430Ser)	PRPF3 (N430S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3219144	NM_004698.4(PRPF3):c.1298C>T (p.Pro433Leu)	PRPF3 (P298L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3219145	NM_004698.4(PRPF3):c.1345C>T (p.Arg449Trp)	PRPF3 (R314W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3310355	NM_004698.4(PRPF3):c.1530G>C (p.Ala510=)	PRPF3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2609034	NM_004698.4(PRPF3):c.1748T>C (p.Val583Ala)	PRPF3 (V448A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273867	NM_004698.4(PRPF3):c.1931G>C (p.Gly644Ala)	PRPF3 (G509A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336610	NM_004698.4(PRPF3):c.2027A>G (p.Glu676Gly)	PRPF3 (E676G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance