PRPF40B[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2519924	NM_001031698.3(PRPF40B):c.103C>T (p.Pro35Ser)	PRPF40B (P7S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258378	NM_001031698.3(PRPF40B):c.109C>G (p.Pro37Ala)	PRPF40B (P9A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310382	NM_001031698.3(PRPF40B):c.139A>G (p.Ser47Gly)	PRPF40B (S19G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219199	NM_001031698.3(PRPF40B):c.151C>T (p.Pro51Ser)	PRPF40B (P24S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474974	NM_001031698.3(PRPF40B):c.202A>G (p.Met68Val)	PRPF40B (M68V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310373	NM_001031698.3(PRPF40B):c.275C>T (p.Ala92Val)	PRPF40B (A64V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240255	NM_001031698.3(PRPF40B):c.316G>A (p.Ala106Thr)	PRPF40B (A106T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310368	NM_001031698.3(PRPF40B):c.341G>T (p.Gly114Val)	PRPF40B (G87V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261346	NM_001031698.3(PRPF40B):c.383G>A (p.Gly128Glu)	PRPF40B (G100E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542103	NM_001031698.3(PRPF40B):c.385C>T (p.Arg129Cys)	PRPF40B (R129C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219197	NM_001031698.3(PRPF40B):c.401A>G (p.Asn134Ser)	PRPF40B (N134S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310379	NM_001031698.3(PRPF40B):c.439G>C (p.Val147Leu)	PRPF40B (V119L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235725	NM_001031698.3(PRPF40B):c.497C>T (p.Ser166Leu)	PRPF40B (S102L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250331	NM_001031698.3(PRPF40B):c.553C>T (p.Arg185Trp)	PRPF40B (R148W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310381	NM_001031698.3(PRPF40B):c.561G>T (p.Lys187Asn)	PRPF40B (K150N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310376	NM_001031698.3(PRPF40B):c.647C>T (p.Pro216Leu)	PRPF40B (P152L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242839	NM_001031698.3(PRPF40B):c.692C>T (p.Thr231Ile)	PRPF40B (T167I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530015	NM_001031698.3(PRPF40B):c.701C>T (p.Pro234Leu)	PRPF40B (P206L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310375	NM_001031698.3(PRPF40B):c.749T>C (p.Val250Ala)	PRPF40B (V186A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219198	NM_001031698.3(PRPF40B):c.778G>T (p.Gly260Trp)	PRPF40B (G196W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516112	NM_001031698.3(PRPF40B):c.806C>T (p.Pro269Leu)	PRPF40B (P242L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299633	NM_001031698.3(PRPF40B):c.865G>A (p.Glu289Lys)	PRPF40B (E225K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310372	NM_001031698.3(PRPF40B):c.869G>A (p.Arg290Lys)	PRPF40B (R263K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512236	NM_001031698.3(PRPF40B):c.956C>T (p.Ser319Leu)	PRPF40B (S255L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322173	NM_001031698.3(PRPF40B):c.991C>T (p.Pro331Ser)	PRPF40B (P331S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610420	NM_001031698.3(PRPF40B):c.994C>G (p.Arg332Gly)	PRPF40B (R332G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282764	NM_001031698.3(PRPF40B):c.1058G>A (p.Arg353Gln)	PRPF40B (R289Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310380	NM_001031698.3(PRPF40B):c.1084C>T (p.Arg362Trp)	PRPF40B (R334W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603737	NM_001031698.3(PRPF40B):c.1110G>C (p.Gln370His)	PRPF40B (Q342H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243114	NM_001031698.3(PRPF40B):c.1141C>T (p.Arg381Cys)	PRPF40B (R317C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531641	NM_001031698.3(PRPF40B):c.1154C>T (p.Thr385Ile)	PRPF40B (T348I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395289	NM_001031698.3(PRPF40B):c.1154C>A (p.Thr385Asn)	PRPF40B (T321N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412348	NM_001031698.3(PRPF40B):c.1197G>T (p.Glu399Asp)	PRPF40B (E280D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481445	NM_001031698.3(PRPF40B):c.1286A>G (p.Lys429Arg)	PRPF40B (K310R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310371	NM_001031698.3(PRPF40B):c.1294C>T (p.Arg432Trp)	PRPF40B (R313W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479682	NM_001031698.3(PRPF40B):c.1425G>C (p.Gln475His)	PRPF40B (Q447H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 36