Related gene-specific medical variations for Gene (Select 389549) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278555	NM_001024613.4(FEZF1):c.109A>G (p.Met37Val)	FEZF1, FEZF1-AS1 (M37V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278554	NM_001024613.4(FEZF1):c.671C>T (p.Ala224Val)	FEZF1, FEZF1-AS1 (A224V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094539	NM_001024613.4(FEZF1):c.65T>A (p.Met22Lys)	FEZF1, FEZF1-AS1 (M22K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094537	NM_001024613.4(FEZF1):c.440G>A (p.Arg147His)	FEZF1, FEZF1-AS1 (R147H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3094536	NM_001024613.4(FEZF1):c.254G>A (p.Ser85Asn)	FEZF1, FEZF1-AS1 (S85N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3094535	NM_001024613.4(FEZF1):c.166T>G (p.Leu56Val)	FEZF1, FEZF1-AS1 (L56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3058729	NM_001024613.4(FEZF1):c.735C>G (p.Thr245=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FEZF1-related disorder	GLikely benign
Select item 2623701	NM_001024613.4(FEZF1):c.752G>C (p.Gly251Ala)	FEZF1, FEZF1-AS1 (G251A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620290	NM_001024613.4(FEZF1):c.449A>G (p.Asn150Ser)	FEZF1, FEZF1-AS1 (N150S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606475	NM_001024613.4(FEZF1):c.394G>A (p.Ala132Thr)	FEZF1, FEZF1-AS1 (A132T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499055	NM_001024613.4(FEZF1):c.504C>T (p.Gly168=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2484322	NM_001024613.4(FEZF1):c.250A>T (p.Thr84Ser)	FEZF1, FEZF1-AS1 (T84S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470531	NM_001024613.4(FEZF1):c.677T>G (p.Leu226Arg)	FEZF1, FEZF1-AS1 (L176R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383196	NM_001024613.4(FEZF1):c.370G>T (p.Ala124Ser)	FEZF1, FEZF1-AS1 (A124S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368433	NM_001024613.4(FEZF1):c.494G>C (p.Arg165Pro)	FEZF1, FEZF1-AS1 (R165P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2350158	NM_001024613.4(FEZF1):c.184A>G (p.Lys62Glu)	FEZF1, FEZF1-AS1 (K62E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302872	NM_001024613.4(FEZF1):c.779T>C (p.Phe260Ser)	FEZF1, FEZF1-AS1 (F210S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269105	NM_001024613.4(FEZF1):c.305C>T (p.Ala102Val)	FEZF1, FEZF1-AS1 (A102V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258460	NM_001024613.4(FEZF1):c.55C>T (p.Arg19Trp)	FEZF1, FEZF1-AS1 (R19W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246715	NM_001024613.4(FEZF1):c.115C>T (p.Arg39Cys)	FEZF1, FEZF1-AS1 (R39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222520	NM_001024613.4(FEZF1):c.463C>T (p.His155Tyr)	FEZF1, FEZF1-AS1 (H155Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2118461	NM_001024613.4(FEZF1):c.197A>C (p.His66Pro)	FEZF1, FEZF1-AS1 (H66P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2103848	NM_001024613.4(FEZF1):c.188A>G (p.His63Arg)	FEZF1, FEZF1-AS1 (H63R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1940609	NM_001024613.4(FEZF1):c.590A>G (p.Tyr197Cys)	FEZF1, FEZF1-AS1 (Y197C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1938510	NM_001024613.4(FEZF1):c.266G>A (p.Gly89Glu)	FEZF1, FEZF1-AS1 (G89E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1904434	NM_001024613.4(FEZF1):c.711G>T (p.Leu237=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1428079	NM_001024613.4(FEZF1):c.74C>A (p.Thr25Lys)	FEZF1, FEZF1-AS1 (T25K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339088	NM_001024613.4(FEZF1):c.263C>T (p.Ala88Val)	FEZF1, FEZF1-AS1 (A88V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1292689	NM_001024613.4(FEZF1):c.-36A>G	FEZF1, FEZF1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1276511	NC_000007.14:g.122304803dup	FEZF1, FEZF1-AS1	Duplication (genic upstream transcript variant)	not provided	GBenign
Select item 1267122	NC_000007.14:g.122304811del	FEZF1, FEZF1-AS1	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 788360	NM_001024613.4(FEZF1):c.213C>T (p.Ile71=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 787587	NM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly)	FEZF1, FEZF1-AS1 (S85G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 774664	NM_001024613.4(FEZF1):c.285G>C (p.Pro95=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 757582	NM_001024613.4(FEZF1):c.180A>G (p.Glu60=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 754082	NM_001024613.4(FEZF1):c.438G>A (p.Pro146=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 753625	NM_001024613.4(FEZF1):c.123A>T (p.Pro41=)	FEZF1, FEZF1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734305	NM_001024613.4(FEZF1):c.780C>T (p.Phe260=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 731510	NM_001024613.4(FEZF1):c.405G>A (p.Ala135=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 725249	NM_001024613.4(FEZF1):c.615G>A (p.Val205=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 723308	NM_001024613.4(FEZF1):c.553T>C (p.Phe185Leu)	FEZF1, FEZF1-AS1 (F185L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 721996	NM_001024613.4(FEZF1):c.252G>A (p.Thr84=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 718873	NM_001024613.4(FEZF1):c.523G>C (p.Gly175Arg)	FEZF1, FEZF1-AS1 (G175R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 156220	NM_001024613.4(FEZF1):c.653del (p.Phe218fs)	FEZF1, FEZF1-AS1 (F168fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hypogonadotropic hypogonadism 22 with anosmia	GPathogenic

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Links from Gene

Items: 44