CNTF[gene] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 3146683	NM_000614.4(CNTF):c.38G>A (p.Arg13His)	CNTF, ZFP91-CNTF (R13H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529186	NM_000614.4(CNTF):c.56G>T (p.Arg19Leu)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285258	NM_000614.4(CNTF):c.56G>A (p.Arg19His)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210372	NM_000614.4(CNTF):c.58T>C (p.Ser20Pro)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357016	NM_000614.4(CNTF):c.83G>A (p.Arg28His)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 17493	NM_000614.4(CNTF):c.115-6G>A	CNTF, ZFP91-CNTF	Single nucleotide variant (intron variant)	CILIARY NEUROTROPHIC FACTOR POLYMORPHISM	GBenign
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 3146681	NM_000614.4(CNTF):c.148C>A (p.Leu50Met)	CNTF, ZFP91-CNTF (L50M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221297	NM_000614.4(CNTF):c.266G>C (p.Arg89Thr)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487946	NM_000614.4(CNTF):c.286G>C (p.Val96Leu)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146682	NM_000614.4(CNTF):c.364C>G (p.Gln122Glu)	ZFP91-CNTF, CNTF (Q122E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146684	NM_000614.4(CNTF):c.407G>A (p.Arg136His)	CNTF, ZFP91-CNTF (R136H)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3146685	NM_000614.4(CNTF):c.488A>G (p.Gln163Arg)	CNTF, ZFP91-CNTF (Q163R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485986	NM_000614.4(CNTF):c.494T>G (p.Leu165Arg)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531177	NM_000614.4(CNTF):c.530G>A (p.Arg177His)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2307772	NM_000614.4(CNTF):c.560C>T (p.Pro187Leu)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2225361	NM_000614.4(CNTF):c.568G>A (p.Gly190Arg)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284727	NM_000614.4(CNTF):c.580A>G (p.Ile194Val)	CNTF, ZFP91-CNTF	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 972998	GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3	CNTF, GLYAT +5 more	Copy number gain	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31