Related gene-specific medical variations for Gene (Select 386607) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2641806	NM_000614.4(CNTF):c.565C>T (p.Arg189Cys)	CNTF, ZFP91-CNTF (R189C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2620105	NM_053023.5(ZFP91):c.140G>A (p.Ser47Asn)	ZFP91, ZFP91-CNTF (S47N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617349	NM_000614.4(CNTF):c.557T>G (p.Ile186Ser)	CNTF, ZFP91-CNTF (I186S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590576	NM_053023.5(ZFP91):c.400G>A (p.Asp134Asn)	ZFP91, ZFP91-CNTF (D134N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589591	NM_000614.4(CNTF):c.462G>C (p.Lys154Asn)	CNTF, ZFP91-CNTF (K154N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569585	NM_053023.5(ZFP91):c.95G>A (p.Arg32Gln)	ZFP91, ZFP91-CNTF (R32Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550922	NM_053023.5(ZFP91):c.1466G>T (p.Gly489Val)	ZFP91, ZFP91-CNTF (G489V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543248	NM_053023.5(ZFP91):c.1613G>A (p.Ser538Asn)	ZFP91, ZFP91-CNTF (S538N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542485	NM_053023.5(ZFP91):c.43G>A (p.Asp15Asn)	ZFP91, ZFP91-CNTF (D15N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531177	NM_000614.4(CNTF):c.530G>A (p.Arg177His)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529186	NM_000614.4(CNTF):c.56G>T (p.Arg19Leu)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522039	NM_053023.5(ZFP91):c.1333G>A (p.Val445Ile)	ZFP91, ZFP91-CNTF (V445I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487946	NM_000614.4(CNTF):c.286G>C (p.Val96Leu)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486580	NM_053023.5(ZFP91):c.872G>A (p.Arg291Gln)	ZFP91, ZFP91-CNTF (R290Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485986	NM_000614.4(CNTF):c.494T>G (p.Leu165Arg)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479764	NM_053023.5(ZFP91):c.427A>T (p.Ile143Phe)	ZFP91, ZFP91-CNTF (I143F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407654	NM_053023.5(ZFP91):c.255C>G (p.Ser85Arg)	ZFP91-CNTF, ZFP91 (S85R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365401	NM_053023.5(ZFP91):c.526G>A (p.Gly176Ser)	ZFP91, ZFP91-CNTF (G176S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357016	NM_000614.4(CNTF):c.83G>A (p.Arg28His)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325615	NM_053023.5(ZFP91):c.1702G>T (p.Ala568Ser)	ZFP91, ZFP91-CNTF (A567S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319308	NM_053023.5(ZFP91):c.199G>T (p.Ala67Ser)	ZFP91, ZFP91-CNTF (A67S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307772	NM_000614.4(CNTF):c.560C>T (p.Pro187Leu)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301317	NM_053023.5(ZFP91):c.1402G>A (p.Ala468Thr)	ZFP91-CNTF, ZFP91 (A468T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285258	NM_000614.4(CNTF):c.56G>A (p.Arg19His)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284727	NM_000614.4(CNTF):c.580A>G (p.Ile194Val)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264584	NM_053023.5(ZFP91):c.167G>A (p.Arg56Gln)	ZFP91-CNTF, ZFP91 (R56Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260391	NM_053023.5(ZFP91):c.448C>T (p.Arg150Trp)	ZFP91-CNTF, ZFP91 (R150W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247314	NM_053023.5(ZFP91):c.307T>G (p.Ser103Ala)	ZFP91-CNTF, ZFP91 (S103A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239656	NM_053023.5(ZFP91):c.286C>G (p.Pro96Ala)	ZFP91-CNTF, ZFP91 (P96A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225361	NM_000614.4(CNTF):c.568G>A (p.Gly190Arg)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221297	NM_000614.4(CNTF):c.266G>C (p.Arg89Thr)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210372	NM_000614.4(CNTF):c.58T>C (p.Ser20Pro)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 768450	NM_000614.4(CNTF):c.146A>G (p.Asn49Ser)	CNTF, ZFP91-CNTF (N49S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 17493	NM_000614.4(CNTF):c.115-6G>A	CNTF, ZFP91-CNTF	Single nucleotide variant (intron variant)	CILIARY NEUROTROPHIC FACTOR POLYMORPHISM	GBenign

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Links from Gene

Items: 34