Related gene-specific medical variations for Gene (Select 1270) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 16

	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 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 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 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 2487946	NM_000614.4(CNTF):c.286G>C (p.Val96Leu)	ZFP91-CNTF, CNTF	Single nucleotide variant (missense 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 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 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 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 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