Related gene-specific medical variations for Gene (Select 91010) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310383	NM_001031698.3(PRPF40B):c.1846G>A (p.Ala616Thr)	FMNL3, PRPF40B (A497T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310378	NM_001031698.3(PRPF40B):c.1430T>C (p.Met477Thr)	FMNL3, PRPF40B (M477T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310377	NM_001031698.3(PRPF40B):c.2227G>C (p.Glu743Gln)	FMNL3, PRPF40B (E624Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310370	NM_001031698.3(PRPF40B):c.1429A>G (p.Met477Val)	FMNL3, PRPF40B (M358V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310369	NM_001031698.3(PRPF40B):c.1924A>G (p.Lys642Glu)	FMNL3, PRPF40B (K523E +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3095868	NM_175736.5(FMNL3):c.44C>A (p.Pro15His)	FMNL3, LOC130007857 (P15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095866	NM_175736.5(FMNL3):c.24G>C (p.Glu8Asp)	FMNL3, LOC130007857 (E8D)	Single nucleotide variant (missense variant)	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 2548333	NM_175736.5(FMNL3):c.13G>A (p.Glu5Lys)	FMNL3, LOC130007857 (E5K)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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

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Links from Gene

Items: 37