"Ambry Genetics"[submitter] AND "PRPF18"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2623936	NM_003675.4(PRPF18):c.71A>G (p.Asn24Ser)	PRPF18 (N9S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317125	NM_003675.4(PRPF18):c.118G>A (p.Ala40Thr)	PRPF18 (A25T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3219138	NM_003675.4(PRPF18):c.233C>T (p.Thr78Met)	PRPF18 (T2M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267817	NM_003675.4(PRPF18):c.476T>C (p.Val159Ala)	PRPF18 (V144A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479490	NM_003675.4(PRPF18):c.512C>T (p.Ala171Val)	PRPF18 (A118V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601932	NM_003675.4(PRPF18):c.569A>G (p.Lys190Arg)	PRPF18 (K175R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516897	NM_003675.4(PRPF18):c.592G>A (p.Val198Ile)	PRPF18 (V145I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205591	NM_003675.4(PRPF18):c.748A>G (p.Ile250Val)	PRPF18 (I174V +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317504	NM_003675.4(PRPF18):c.979A>G (p.Lys327Glu)	PRPF18 (K336E +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542174	NM_003675.4(PRPF18):c.1018A>G (p.Asn340Asp)	PRPF18 (N316D +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467531	NM_018027.5(FRMD4A):c.3013C>T (p.Pro1005Ser)	FRMD4A, PRPF18 (P1005S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096914	NM_018027.5(FRMD4A):c.2999T>C (p.Ile1000Thr)	FRMD4A, PRPF18 (I1016T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556158	NM_018027.5(FRMD4A):c.2984C>T (p.Thr995Ile)	FRMD4A, PRPF18 (T1011I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096913	NM_018027.5(FRMD4A):c.2956G>A (p.Ala986Thr)	FRMD4A, PRPF18 (A1002T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance