PRPF40B[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 2479682	NM_001031698.3(PRPF40B):c.1425G>C (p.Gln475His)	PRPF40B (Q447H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219175	NM_001031698.3(PRPF40B):c.1502G>A (p.Arg501Gln)	FMNL3, PRPF40B (R382Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386091	NM_001031698.3(PRPF40B):c.1519C>T (p.Arg507Trp)	FMNL3, PRPF40B (R443W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223894	NM_001031698.3(PRPF40B):c.1645G>A (p.Val549Ile)	FMNL3, PRPF40B (V485I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254700	NM_001031698.3(PRPF40B):c.1646T>C (p.Val549Ala)	FMNL3, PRPF40B (V512A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219177	NM_001031698.3(PRPF40B):c.1703T>A (p.Phe568Tyr)	FMNL3, PRPF40B (F449Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219178	NM_001031698.3(PRPF40B):c.1753A>C (p.Lys585Gln)	FMNL3, PRPF40B (K521Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383779	NM_001031698.3(PRPF40B):c.1783G>C (p.Val595Leu)	FMNL3, PRPF40B (V558L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3219179	NM_001031698.3(PRPF40B):c.1799C>T (p.Ala600Val)	FMNL3, PRPF40B (A481V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219180	NM_001031698.3(PRPF40B):c.1816C>T (p.His606Tyr)	FMNL3, PRPF40B (H542Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219181	NM_001031698.3(PRPF40B):c.1897G>T (p.Ala633Ser)	FMNL3, PRPF40B (A623S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219182	NM_001031698.3(PRPF40B):c.1906C>T (p.Arg636Trp)	FMNL3, PRPF40B (R601W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546088	NM_001031698.3(PRPF40B):c.1919G>A (p.Arg640Gln)	FMNL3, PRPF40B (R521Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208472	NM_001031698.3(PRPF40B):c.1923G>C (p.Glu641Asp)	FMNL3, PRPF40B (E614D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219184	NM_001031698.3(PRPF40B):c.1946G>A (p.Arg649Gln)	FMNL3, PRPF40B (R530Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409432	NM_001031698.3(PRPF40B):c.1949G>A (p.Arg650His)	FMNL3, PRPF40B (R615H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234356	NM_001031698.3(PRPF40B):c.1986T>A (p.Ala662=)	FMNL3, PRPF40B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3219185	NM_001031698.3(PRPF40B):c.2027G>A (p.Arg676His)	FMNL3, PRPF40B (R557H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219186	NM_001031698.3(PRPF40B):c.2075C>T (p.Ser692Leu)	FMNL3, PRPF40B (S573L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219187	NM_001031698.3(PRPF40B):c.2186A>G (p.Lys729Arg)	FMNL3, PRPF40B (K610R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219188	NM_001031698.3(PRPF40B):c.2255C>G (p.Pro752Arg)	FMNL3, PRPF40B (P688R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616884	NM_001031698.3(PRPF40B):c.2260C>T (p.Arg754Trp)	FMNL3, PRPF40B (R691W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219189	NM_001031698.3(PRPF40B):c.2313T>G (p.Asp771Glu)	FMNL3, PRPF40B (D708E +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410768	NM_001031698.3(PRPF40B):c.2315C>T (p.Ser772Leu)	FMNL3, PRPF40B (S736L +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219190	NM_001031698.3(PRPF40B):c.2336C>T (p.Ala779Val)	FMNL3, PRPF40B (A745V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219192	NM_001031698.3(PRPF40B):c.2436C>G (p.His812Gln)	FMNL3, PRPF40B (H748Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219193	NM_001031698.3(PRPF40B):c.2638C>T (p.Arg880Trp)	PRPF40B, FMNL3 (R817W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219194	NM_001031698.3(PRPF40B):c.2641C>T (p.Arg881Trp)	FMNL3, PRPF40B (R881W +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219195	NM_001031698.3(PRPF40B):c.2645G>A (p.Arg882Gln)	FMNL3, PRPF40B (R818Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219196	NM_001031698.3(PRPF40B):c.2647A>G (p.Thr883Ala)	FMNL3, PRPF40B (T764A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527709	GRCh37/hg19 12q13.12(chr12:49976064-50147736)	FAM186B, FMNL3 +2 more	Copy number loss	not specified	GUncertain significance
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 63